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Volkmann’s Ischaemic Contracture (vic)

Disease Name : Volkmann’s Ischaemic Contracture (vic), Symptoms : paresthesia : Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching., Pain : Pain is the earliest manifestation., PULSELESSNESS : In VIC, the affected individuals have no pulse., paralysis : Paralysis of the hands & wrist is seen in the affected individuals., Signs : pallor : Pain is followed by yellowish discoloration of the skin., Treatment : Mild deformities can be corrected by,passive stretching of the contracted muscles, using a,turn-buckle splint (Volkmann’s splint). For moderate,deformities, a soft tissue sliding operation, where the,flexor muscles are released from their origin at the,medial epicondyle and ulna, is performed (Maxpage,operation). For a severe deformity, bone operations,such as shortening of the forearm bones, carpal bone,excision etc. may be required., Pathophysiology : Volkmann contracture occurs when there is a lack of blood flow (ischemia) to the forearm. This occurs when there is increased pressure due to swelling, a condition called compartment syndrome.Injury to the arm, including a crush injury or fracture, can lead to swelling that presses on blood vessels and decreases blood flow to the arm. A prolonged decrease in blood flow injures the nerves and muscles, causing them to become stiff (scarred) and shortened.When the muscle shortens, it pulls on the joint at the end of the muscle just as it would if it were normally contracted. But because it is stiff, the joint remains bent and stuck. This condition is called a contracture., Epidemiology : the incidence of Volkmann contracture was 0.105%, POOR, Prevention is the best management in this condition. However, there are times, that surgical intervention will be indicated. The majority of Volkmann’s contractures are caused by a supracondylar fracture, and it is essential that all steps are taken to improve the healing of the fracture. When there is an intra-compartment pressure (ICP) of >30 mmHg, 12an urgent fasciotomy is recommended to avoid further complications, Raised ICP threatens the viability of the limb and compartment syndrome (CS) represents a true medical emergency. Thus, the need for decompression by removal of all dressing down to the skin, followed by fasciotomy- Surgical opening of the fascia around the muscles to make more place for the structures inside. This is done to prevent the onset of Volkmann’s contractures., Complications : loss of function, Diagnostics : X RAY, PHYSICAL EXAMINATION, Differential diagnosis : Dupuytren disease, "Pseudo-Volkmanns contracture", disease description : Volkmann contracture is a deformity of the hand, fingers, and wrist caused by injury to the muscles of the forearm. The condition is also called Volkmann ischemic contracture.Volkmanns ischemic contracture (VIC) is a complex and variable flexion deformity of the fingers and wrist resulting from fibrosis and contracture of flexor muscles of forearm caused by ischemic injury secondary to neglected acute compartment syndrome 

Volvulus

Disease Name : Volvulus, Symptoms : abdominal distension : It is commonly in affected individuals., constipation : A history of chronic constipation is common., Abdominal Pain : The sigmoid colon is involved in up to 75% of cases, with older males most affected. 7 Volvulus that affects females, as well as younger people, tends to be located in the cecum, the first part of the colon near the appendix., Signs : "guarding : Abdominal guarding is the tensing of the abdominal wall muscles to guard inflamed organs within the abdomen from the pain of pressure upon them. The tensing is detected when the abdominal wall is pressed. Abdominal guarding is also known as défense musculaire.", obstipation(stool and gas is not passed) : The patient may describe previous episodes of obstipation., Treatment : medication : Ofloxacin , Sigmoid volvulus can be relieved by decompression per anum, Surgery is required to prevent or relieve ischaemia, Pathophysiology : Sigmoid volvulus is typically caused by two mechanisms i.e. chronic constipation and a high-fiber diet. In both instances, the sigmoid colon becomes dilated and loaded with stools, making it susceptible to torsion. The direction of the volvulus is counterclockwise. With repeated attacks of torsion, there is a shortening of mesentery due to chronic inflammation. Subsequently, there is the development of adhesions which then entrap the sigmoid colon into a fixed twisted position. Cecal volvulus can be either organoaxial (cecocolic or true cecal volvulus) or mesentericoaxial (cecal bascule). In the organoaxial variety, the ascending colon and distal ileum twist around each other in a clockwise manner. However, in the mesentericoaxial sub-type, the caecum is not completely fixed and is located anteriorly over the ascending colon at a right angle to the mesentery. Since there is no twisting of the vascular pedicle, vascular compromise is rarely associated with cecal volvulus.  In contrast to colonic volvulus, midgut volvulus in children is invariably due to rotation anomalies of the intestine., Epidemiology : 2 per 100, 000 individuals worldwide., variable, There are no established measures for the primary prevention of volvulus. However, diet is important in maintaining a healthy bowel, this includes : ,,1. Avoidance of chronic constipation by following a high fiber diet. High fiber diets avoid the overstretching of the bowel.,2. Maintaining a good amount of potassium in the diet will avoid the risk of intestinal abnormality.,3. Avoidance of excessive laxative use, in order to avoid megacolon., Complications : Intestinal necrosis , intestinal obstruction , INTESTINAL ISCHEMIA, Diagnostics : Barium Enema, CT SCAN, plain radiograph, Differential diagnosis : abdominal Hernias, appendicitis, cancer, colon cancer, constipation, DIVERTICULITIS, Pseudomembranous colitis, disease description : Volvulus is a twisting or axial rotation of a portion of bowel about its mesentery. The rotation causes obstruction to the lumen (>180° torsion) and if tight enough also causes vascular occlusion in the mesentery (>360° torsion). Bacterial fermentation adds to the distension and increasing intraluminal pressure impairs capillary perfusion. Mesenteric veins become obstructed as a result of the mechanical twisting and thrombosis results and contributes to the ischaemia.

Von Gierke Disease

Disease Name : Von Gierke Disease, Symptoms : epistaxis : Impaired platelet function can lead to a bleeding tendency with frequent nose bleeds., kidney involvement : GSDI causes kidney enlargement in infants., pulmonary hypertension : GSDI causes pulmonary hypertension which is high blood pressure in the arteries that supply the lungs., brain problem : Changes in brain function due to repeated episodes of hypoglycemia., HEPATOMEGALY : Symptoms of GSDI usually begin at three to four months of age and include enlargement of the liver., xanthoma : High lipid levels can lead to the formation of fatty skin growths called xanthomas. Xanthoma is a skin condition in which certain fats build up under the surface of the skin. Xanthomas are raised, waxy-appearing, frequently yellowish-colored skin lesions., Hypoglycemia : The primary symptom of GSDI in infancy is a low blood sugar level., Bone deformities : Includes osteopororsis, gout., Signs : nan, Treatment : medication : Allopurinol , Uncooked cornstarch acts as a slow-release form of glucose and can be,introduced at a dose of 1.6 g/kg every 4 hr for children <2 yr of age. The,response of young children is variable. For older children, the cornstarch,regimen can be changed to every 6 hr at a dose of 1.6-2.5 g/kg body weight and,can be given orally as a liquid. Newer starch products, such as extended-release,waxy maize starch, are thought to be longer acting, better tolerated, and more,palatable., The control of,hyperuricemia can be further augmented by the use of allopurinol, a xanthine,oxidase inhibitor. The hyperlipidemia can be reduced with lipid-lowering drugs,such as ß-hydroxy-ß-methylglutaryl-coenzyme A (HMG-CoA) reductase,inhibitors and fibrate, Orthotopic liver transplantation is a potential cure of type I GSD, especially,for patients with liver malignancy, multiple liver adenomas, metabolic,derangements refractory to medical management, and liver failure. However, this,should be considered as a last resort because of the inherent short- and long-term,complications., Pathophysiology : ??The enzyme G6Pase is primarily expressed in the liver, kidney, and intestine. It has its active site on the luminal side of the endoplasmic reticulum (ER). Glucose-6-phosphate translocase is responsible for translocating Glucose-6-phosphate (G6P) from the cytoplasm into the ER lumen. The complex of G6Pase and G6PT catalyzes the final step of both glycogenolysis and gluconeogenesis for glucose production. Deficiency of either causes an accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa., Epidemiology : The incidence of GSD I in the overall population is 1/100, 000 with GSD Ia and Ib prevalent in 80% and 20% respectively. The Ashkenazi Jewish population has a 5-times greater prevalence compared to rest of the population, There is no simple way to prevent glycogen storage disease.,,Couples who wish to have a baby may seek genetic counseling and testing to determine their risk for passing on von Gierke disease., Complications : Gout, FREQUENT INFECTIONS, Diagnostics : Bleeding Time BT/CT, random blood sugar RBS, SERUM URIC ACID, LIPID PROFILE, CT SCAN, SERUM LACTIC ACID LEVEL, molecular genetic testing, Differential diagnosis : Alcoholic Fatty Liver, Gaucher Disease, Glucagonoma, glucose intolerance, hepatitis, Niemann-Pick disease (NPD) typeA and B, disease description : Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it.

Vulva Carcinoma

Disease Name : Vulva Carcinoma, Symptoms : irregular menstrual bleeding : Bleeding that’s unrelated to menstruation., skin patches : Thickened or rough skin patches., lump : Growths, including lumps, wart-like bumps or ulcers that don’t heal., DYSPAREUNIA : Tenderness and pain, potentially during sex., Skin color changes. : Color changes, including skin that looks darker or lighter than usual, or patches of white skin., Signs : nan, Treatment : For those with advanced vulvar cancer that has spread to other areas of the body, chemotherapy may be an option., •\t Observe young women with multiple lesions and HPV ,positive for 6 months. Persistent lesion requires treatment.,Excision,•\t Wide excision,•\t Skinning vulvectomy,Ablative,• CO2 laser,•\t Photodynamic therapy,Surgery,•\t Simple vulvectomy in older women and in Bowen disease,Medical,•\t Local application of dinitrochlorobenzene, 5% testosterone ,cream, fluoroxacil (5-FU) mainly for local recurrence,•\t Lifelong follow-up, Radiation therapy for vulvar cancer is usually administered by a machine that moves around your body and directs radiation to precise points on your skin (external beam radiation)., "Removing the cancer and a margin of healthy tissue (excision). This procedure, which may also be called a wide local excision or radical excision, involves cutting out the cancer and a small amount of normal tissue that surrounds it. Cutting out what doctors refer to as a margin of normal-looking tissue helps ensure that all of the cancerous cells have been removed.,Removing part of the vulva or the entire vulva (vulvectomy). Surgery to remove part of the vulva (partial vulvectomy) or the entire vulva, including the underlying tissue (radical vulvectomy), may be an option for larger cancers. People with larger cancers may also consider treatment that combines radiation therapy and chemotherapy to shrink the tumor before surgery, which may allow for a less extensive operation.,Removing a few nearby lymph nodes (sentinel node biopsy). To determine whether cancer has spread to the lymph nodes, the surgeon may use a procedure called sentinel node biopsy. This procedure identifies the lymph nodes most likely to contain cancer so they can be removed and analyzed. If cancer isnt found in those first lymph nodes, its unlikely to be in any other lymph nodes.,Removing many lymph nodes. If the cancer has spread to the lymph nodes, many lymph nodes may be removed to reduce the risk that cancer will spread to distant areas of the body.", Pathophysiology : Human Papillomavirus (HPV) Infection : HPV infection is a significant risk factor for vulvar carcinoma. Certain strains of HPV, particularly HPV-16 and HPV-18, are known to increase the risk of developing vulvar cancer. HPV infection can lead to persistent inflammation and cellular changes in the vulvar tissues, which may eventually progress to cancer.Genetic Mutations : Like other types of cancer, vulvar carcinoma can result from genetic mutations that disrupt the normal regulation of cell growth and division. Mutations in tumor suppressor genes (e.g., TP53) or oncogenes (e.g., PIK3CA) can lead to uncontrolled cell proliferation and tumor formation in the vulvar tissues.Chronic Inflammation and Irritation : Chronic irritation or inflammation of the vulvar tissues can increase the risk of developing vulvar carcinoma. Conditions such as lichen sclerosus and lichen planus, which cause long-term inflammation and changes in the vulvar skin, have been associated with an elevated risk of vulvar cancer.Precancerous Lesions : Certain precancerous lesions of the vulva, such as vulvar intraepithelial neoplasia (VIN), can progress to vulvar carcinoma if left untreated. These lesions involve abnormal changes in the cells of the vulvar epithelium, which can evolve into cancer over time.Immunosuppression : A weakened immune system, often seen in individuals with conditions such as HIV/AIDS or those undergoing immunosuppressive therapy, can increase the risk of HPV infection and the development of vulvar carcinoma.Age and Hormonal Factors : The risk of vulvar carcinoma increases with age, with the highest incidence seen in older women. Additionally, hormonal factors, such as estrogen exposure, may play a role in the development of vulvar cancer, although the exact mechanisms are not fully understood., Epidemiology : Cancer of the vulva is a rare entity and accounts for 1–5% of all genital cancers, <1 %, POOR, The best way to reduce your risk is to get the HPV vaccine to prevent infections. In the U.S., adults up to age 45 may receive Gardasil 9® depending on their risk of HPV exposure. Cervarix® and Gardasil® are HPV vaccines available in other countries.,,See your healthcare provider right away if you develop any symptoms of vulvar cancer. Schedule regular checkups, including a physical exam, at least annually for your gynecological health., Complications : CELLULITIS, lymphedema, bone metastasis, Diagnostics : PAP SMEAR, Colposcopy, biopsy, CT SCAN, PHYSICAL EXAMINATION, Differential diagnosis : Atopic dermatitis, candidiasis, Contact dermatitis, cutaneous melanoma, Lichen Planus, lichen sclerosus, Mycosis fungoides, psoriasis, disease description : Vulvar cancer is a type of cancer that occurs on the outer surface area of the female genitalia. The vulva is the area of skin that surrounds the urethra and vagina, including the clitoris and labia.Vulvar cancer is a type of cancer that occurs on the outer surface area of the female genitalia. The vulva is the area of skin that surrounds the urethra and vagina, including the clitoris and labia.Vulvar cancer commonly forms as a lump or sore on the vulva that often causes itching. Though it can occur at any age, vulvar cancer is most commonly diagnosed in older adults.Vulvar cancer treatment usually involves surgery to remove the cancer and a small amount of surrounding healthy tissue. Sometimes vulvar cancer surgery requires removing the entire vulva. The earlier vulvar cancer is diagnosed, the less likely an extensive surgery is needed for treatment.

Vulval Cyst

Disease Name : Vulval Cyst, Symptoms : swelling : Swelling and tenderness in the vaginal opening., fever : It can also cause a high temperature., Pain : Discomfort and pain during sex, walking, sitting, or when inserting a tampon or wiping after using the restroom., DISCHARGE : Drainage from the cyst., Signs : nan, Treatment : Asymptomatic Bartholin cysts do not require further treatment. Bartholin cysts or abscesses that are spontaneously draining may be managed conservatively with sitz baths and analgesics, Sitz baths : Sit in a bathtub with 3 to 4 inches of warm water a few times a day for several days. This can provide comfort and promote healing. It could also help the infected cyst to burst and drain on its own.,Over-the-counter pain medications : Take as directed for pain relief and discomfort.,Antibiotics : If your cyst becomes infected or tests show you have a sexually transmitted infection (STI), your healthcare provider may prescribe antibiotics., INCISION AND DRAINAGE OF THE CYST, Marsupialization : The cyst is surgically opened and drained. Then, the surgeon will stitch the edges of the cyst wall to form a permanent open pocket or “pouch” for continuous drainage. This is often helpful for recurrent Bartholin cysts., Pathophysiology : Obstruction of Glands or Follicles : The vulva contains several types of glands, including sweat glands, sebaceous glands, and Bartholins glands. These glands produce fluids that help moisturize and lubricate the vulvar tissues. If the ducts of these glands become blocked or obstructed, the secretions can accumulate, leading to the formation of a cyst.Bartholins Cysts : One common type of vulval cyst is a Bartholins cyst. Bartholins glands are located on either side of the vaginal opening and secrete fluid to lubricate the area. If the duct of a Bartholins gland becomes obstructed, a cyst can form. This obstruction can be caused by trauma, infection, inflammation, or other factors.Epidermal Inclusion Cysts : These cysts, also known as sebaceous cysts, are often caused by the trapping of keratin (a protein found in skin cells) beneath the skin. This can occur when a hair follicle becomes blocked, leading to the accumulation of material and the formation of a cyst.Trauma and Infection : In some cases, trauma or infection to the vulvar area can lead to the development of a cyst. Inflammation or damage to the tissues can disrupt normal glandular function and lead to cyst formation.Genetic Predisposition : Some individuals may have a genetic predisposition to developing certain types of cysts, such as epidermal inclusion cysts., Epidemiology : Bartholin cysts/abscesses are predominantly found in women of child-bearing age. The incidence of Bartholin cysts is most often noted at the onset of puberty and increases with age until menopause., GOOD, There is no way to prevent vaginal cysts. Maintaining good hygiene habits will help prevent infection of a cyst. Using a condom during sex can also help prevent cysts caused by sexually transmitted infections (STIs)., Complications : DYSPAREUNIA, hemorrhage, recurrence, Diagnostics : biopsy, USG, MRI PELVIS, PHYSICAL EXAMINATION, Differential diagnosis : Fibroadenoma, Fibroma, folliculitis, hematomas, Papillary hidradenoma, squamous cell carcinoma., Syringoma, disease description : A Bartholin cyst (or vulvar cyst) is a type of vaginal cyst that forms on either side of the labia (vaginal lips) near the opening of the vagina.A Bartholin cyst (or vulvar cyst) is a type of vaginal cyst that forms on either side of the labia (vaginal lips) near the opening of the vagina. It’s named after the Bartholin glands, which are two small glands that produce the fluid (mucus) that help lubricate the vagina. The labia and Bartholin’s glands are part of the vulva in the female reproductive system.

Vulval Intraepithelial Neoplasia

Disease Name : Vulval Intraepithelial Neoplasia, Symptoms : Burning pain : Burning, tingling or soreness in the vulva area., DYSPAREUNIA : Pain during sex., LESIONS : Slightly raised skin lesions; some may appear darkened like a mole or freckle., vulval itching : VIN causes chronic vulval itching., Skin color changes. : Change in appearance of the affected area, including areas of redness or white, discolored skin., Signs : nan, Treatment : medication : Imiquimod , Topical chemotherapy cream to remove abnormal cells, Surgery to remove the abnormal tissue,Laser therapy to destroy targeted areas of abnormal cells, using a beam of light,Diathermy, which uses a tiny electrical current to cut out the affected areas, Steroid cream to reduce inflammation and control symptoms, with close monitoring, Vulvectomy, removal of the whole vulva, in rare cases where the affected areas are very large,VIN can recur after treatment, therefore regular follow-up appointments are highly recommended., Pathophysiology : HPV is a single-stranded DNA virus. uVIN occurs when the body fails to produce an effective immune response to high-risk HPV subtypes. The viral DNA integrates into the host cells resulting in the production of oncoproteins E6 and E7 which interfere with normal cellular function. This integration allows normal tissues to evade apoptosis, deregulate cellular proliferation, and/or promote genomic instability. Mutations of p53 and PTEN, as well as microsatellite instability, have also been demonstrated in HPV-independent carcinogenesis. dVIN appears to be related to chronic oxidative genetic damage that promotes similar aberrant cellular function. Lichen sclerosis and lichen planus are examples of chronic, inflammatory changes to the normal epithelium that are associated with squamous cell carcinoma of the vulva., Epidemiology : The prevalence of HPV in vulvar cancer (91 studies; n=8200) was 39·1%, 3.5%, variable, Vaccinating girls with HPV vaccine before their initial sexual contact has been claimed to reduce incidence of VIN., Complications : cervical intraepithelial neoplasia., Diagnostics : Colposcopy, biopsy, CT SCAN, Differential diagnosis : candidiasis, Dermatoses, Extramammary Paget disease, herpes, Lichen Planus, Lichen simplex, vestibulitis, disease description : Vulvar intraepithelial neoplasia, or VIN, is a precancerous skin condition on the vulva. It occurs when there are changes in the cells of the skin covering the vulva. VIN is not cancer. However, if the changes become more severe, cancer of the vulva may develop after many years. Also known as dysplasia, VIN can range from mild to severe.

Vulval Melanoma

Disease Name : Vulval Melanoma, Symptoms : bleeding : Common symptoms of primary malignant vaginal melanoma are abnormal vaginal bleeding (63.6-80%)., vulval itching : Intense itching in the vulva is a common complaint., Signs : nan, Treatment : Your treatment is planned by a multidisciplinary team (MDT). The team includes a number of different health professionals, including melanoma specialists, specialists in gynaecological cancers and specialist cancer nurses., The main treatments for vulval melanoma is surgery to remove the cancer. This is called a wide local excision., Pathophysiology : Genetics Mutations in the KIT pathway are more common in vulval melanomas than other mucosal lesions. There is often a delay in diagnosis and a poorer prognosis for vulval and vaginal melanoma in particular. Melanoma starts in cells called melanocytes. These are pigment producing cells found mostly in the skin.Most melanomas develop in parts of the body exposed to the sun. But you can get them anywhere, including body organs, because there are melanocytes in these areas too.It’s not clear why melanomas can form in parts of the body that are not exposed to the sun., Epidemiology : It is most often found in women older than 50 years. White women are at higher risk of vulval melanoma than black women., About 9 out of every 100 vulval cancers (9%) are melanomas. It is important to remember that vulval cancers are rare., variable, The best way to reduce your risk is to get the HPV vaccine to prevent infections. In the U.S., adults up to age 45 may receive Gardasil 9® depending on their risk of HPV exposure. Cervarix® and Gardasil® are HPV vaccines available in other countries.,,See your healthcare provider right away if you develop any symptoms of vulvar cancer. Schedule regular checkups, including a physical exam, at least annually for your gynecological health., Complications : Erysipelas, lymphocele, Diagnostics : biopsy, MRI, CT SCAN, HISTOLOGIC EXAMINATION, Differential diagnosis : Melanotic macules, simple lentigo and lentiginous , squamous cell carcinoma, disease description : Vulval melanoma develops from the cells in the skin that produce pigment, which gives the skin its colour. It often involves the inner lips (labia) of the vulva.Vulval melanoma is the second most common type of vulval cancer. Less than 10 in every 100 vulval cancers (less than 10%) are melanomas. It is most often found in women who no longer have periods (post menopause). White women are at higher risk of vulval melanoma than Black women.

Vulval Melanosis

Disease Name : Vulval Melanosis, Symptoms : Asymptomatic : Vulvar melanosis is characterized by asymmetrical, tan-brown to black, irregularly bordered macules of variable size on the vulvar mucosa., Signs : nan, Treatment : Most clinicians advise continuing observation, using photographs,or diagrams as an aid., Pathophysiology : Pathology There is basal cell layer hyperpigmentation but no increase in the number of melanocytes. Pigmentary incontinence and pigment- rich macrophages may be seen in the dermis, Epidemiology : benign condition, Complications : nan, Diagnostics : biopsy, Differential diagnosis : nan, disease description : Vulval melanosis is characterized by hyperpigmented lesions in the absence of any previous cause. There is no increase in melanocyte. Vulval melanosis is seen more commonly in young women.

Vulvo-vaginal Adenosis

Disease Name : Vulvo-vaginal Adenosis, Symptoms : bleeding : vaginal discharge or postcoital bleeding, itching, Signs : erythematous lesions, Treatment : Local lesion resection is the primary treatment., Pathophysiology : The pathogenesis is unknown but it is postulated that it develops from remnant tissue of paramesonephric origin. Predisposing factors Prolonged use of the oral contraceptive pill and trauma can predispose to adenosis. Upper vaginal disease is well recognized to occur after in utero exposure to diethyl stilboestrol taken during pregnancy., Epidemiology : Vulvo-vaginal adenosis, The incidence of adenosis in women not exposed to DES varies markedly, ranging from 0 to 40.8%, variable, Complications : bleeding, vaginal adenocarcinoma, Diagnostics : HISTOLOGIC EXAMINATION, Differential diagnosis : cervical ectropion, disease description : Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.

Vulvo-vaginal Candidosis

Disease Name : Vulvo-vaginal Candidosis, Symptoms : cutaneous symptoms : Small cuts or tiny cracks in the skin of your vulva because of fragile skin in the area., Redness : Redness and swelling of your vagina and vulva., dysuria : Vulvo-vaginal candidosis causes a burning sensation while urinating., Signs : itching : An itchy or burning sensation in your vagina and vulva., CURD LIKE VAGINAL DISCHARGE : A thick, white vaginal discharge with the consistency of cottage cheese., Treatment : medication : Fluconazole , Econazole , Itraconazole , Clotrimazole , Acute vulvovaginitis can be treated with a single-dose topical ,preparation (pessary or ovule) such as clotrimazole, econazole or ,isoconazole. Longer courses of these compounds (e.g. 14 days), ,as well as polyenes such as nystatin, are also available in some ,countries. If there is coexistent involvement of the skin, a topically ,applied cream should also be used. However, single-day oral therapy with fluconazole 150 mg is widely available and both effective ,and convenient; itraconazole 600 mg is an alternative. Effi cacy is ,similar to that seen with topical drugs. There is no reliable method ,of curing recurrent vaginal candidosis., Pathophysiology : Typically, there is dusky red erythema of the vaginal mucosa and the vulval skin, with curdy white flecks of discharge, but on occasion the only sign is erythema. The rash may extend onto the perineum and into the groins. The perianal area is often affected. In extensive cases, subcorneal pustules may be seen peripherally. In pregnancy, the picture is modified by marked physiological leukorrhoea., Epidemiology : Vaginal candidiasis is common. In the United States, it is the second most common type of vaginal infection after bacterial vaginal infections., An estimated 1.4 million outpatient visits for vaginal candidiasis occur annually, RECURRENT, Wearing cotton underwear might help reduce the chances of getting a yeast infection. Because taking antibiotics can lead to vaginal candidiasis, take these medicines only when prescribed and exactly as your healthcare provider tells you., Complications : Redness, swelling, Diagnostics : FUNGAL CULTURE, vaginal pH, 10% KOH wet preparation, Differential diagnosis : allergic reaction, Atopic dermatitis, Contact dermatitis, LICHEN SCELEROSUS, Paget disease, psoriasis, psoriasis, Vulvodynia, disease description : This condition affects around 75% of women of child-bearing age and presents with itching and soreness, and with a thick, creamy white discharge. Most women with vulvo-vaginal candidosis (VVC) have no evidence of underlying disease. It is more common in pregnancy. In the non-pregnant, it is said to be more prevalent in the premenstruum

Vulvodynia

Disease Name : Vulvodynia, Symptoms : stinging, Vaginal irritation, VULVAL DISCOMFORT, burning sensation : start on its own or when your vulva is touched – for example, when inserting a tampon or having sex, Signs : nan, Treatment : medication : Lidocaine/Lignocaine, Amitriptyline , Gabapentin, Cognitive behavioural therapy (CBT) is a type of therapy that aims to help you manage your problems by changing how you think and act.,,It can often help women cope with the impact that vulvodynia has on their life., Biofeedback therapy with electromyelography for pelvic,floor muscles and Kegel exercise cures 80% cases, Medical—Topical lignocaine 1–2% may help, so also ,steroid creams.,Interferon gel cures only 20% of the cases. Amitriptyline, ,tricyclic for neuralgic pain in a dose of 10 mg daily is given, ,gradually increasing to 60 mg daily as required., Vulval gels and lubricants,A physiotherapist can teach you some pelvic floor exercises (such as squeezing and releasing your pelvic floor muscles) to help relax the muscles around your vagina., Pathophysiology : Vulvodynia may be caused by a problem with the nerves supplying the vulva.This nerve damage could be caused by : previous surgerychildbirthtrapped nerves a history of severe vaginal thrushVulvodynia is not contagious. It has nothing to do with personal hygiene and is not a sign of cancer.Sometimes the exact cause of vulvodynia is never found., Epidemiology : incidence occurs in 4.2 women per 100 person-years at risk, , GOOD, Unfortunately, vulvodynia isn’t preventable., Complications : Emotional instability, VAGINISMUS, Diagnostics : biopsy, COTTON SWAB STICK TEST, HISTORY TAKING, PHYSICAL EXAMINATION, Differential diagnosis : bacterial vaginosis, candidiasis, HERPES SIMPLEX, Lichen Planus, ORGANIC CAUSES, Trichomoniasis, disease description : Vulvodynia is persistent, unexplained pain in the vulva. The vulva is the female genital area including the skin surrounding the opening of the vagina.It can happen to women of all ages.Vulvodynia can become a long-term problem thats very distressing to live with, but much can be done to help relieve the pain.

Vulvovaginitis In Children

Disease Name : Vulvovaginitis In Children, Symptoms : Irritation, soreness, REDDENED EDEMATOUS VULVA : an inflammation of the vagina, PROFUSE PURULENT DISCHARGE, SCRATCHING EXTERNAL GENITALIA : Vulvovaginitis is an irritation and swelling of skin in and around the vulva and vagina in the female genital area, Signs : nan, Treatment : REMOVAL OF FOREIGN BODY IF ANY ,INSPECTION & EXMINATION OF VAGINA UNDER ANESTHESIA, reatment,Ethinyl oestradiol 0.01 mg increases the vaginal epithelial ,resistance and improves the vaginal acidity and is often all ,that is needed to affect a cure., Pathophysiology : While your child is young, the lining of the vagina and vulva can be quite thin and this can lead to it being easily irritated. Moisture or dampness around the vulva can also lead to vulvovaginitis – this is made worse by tight clothing or being overweight. Another cause of vulvovaginitis is irritants, such as soap residue, bubble baths and antiseptics., Epidemiology : 62% of gynecological problems seen by pediatricians., GOOD, Vulvovaginitis is a common diagnosis in toddlers. Steps you can take to prevent vulvovaginitis in your toddler include : ,,Dress your toddler in cotton underwear and loose-fitting clothing.,Use mild, unscented soaps or just water to clean your toddler’s vulva.,Dry your toddler’s vaginal area thoroughly.,Avoid using products that may irritate your toddler’s vaginal area. This includes products such as bubble baths, soaps, shampoos, detergents and fabric softeners.,Don’t let your toddler sit in a wet, tight bathing suit for a long time.,Have your toddler sleep in a nightgown without a diaper or underwear.,,Teaching your child about proper hygiene should treat and prevent future occurrences., Complications : ascending infections, Diagnostics : VAGINAL SWAB CULTURE, HISTORY TAKING, Differential diagnosis : allergic reaction, Atopic dermatitis, foreign body, neoplasms, disease description : Vulvovaginitis is inflammation or irritation of the vagina and vulva (external female genital area). Mild vulvovaginitis is a very common problem, and some children will have vulvovaginitis many times. Once puberty has begun, vulvovaginitis usually occurs less often.In most cases, vulvovaginitis is not a serious problem and it will usually improve with simple steps at home. Usually no medical treatment or tests are needed.

Warthin Tumour

Disease Name : Warthin Tumour, Symptoms : ear problem : Earache, tinnitus, and deafness also occur., "TUMOURS : Warthins tumors are painless, sometimes fluctuant swellings in the lower portion of the parotid gland. Tumors are commonly 2 cm to 4 cm but sometimes achieve considerable size.", Pain : Pain is experienced by about 9% of patients., FACIAL PARALYSIS : Facial paralysis is rare., Signs : nan, Treatment : The optimal treatment of Warthin tumor relies on surgical removal, which can be easily realized due to the superficial location of the tumor. Some surgeons prefer the superficial parotidectomy to avoid the rupture of the tumor capsule, whereas others chose local resection with the surrounding tissue, Pathophysiology : The heterotropic origin of Warthin tumor from the neoplastic proliferation of salivary gland ducts present within intra- or para-parotid nodes. The theory is widely accepted and was sustained by immunohistochemistry findings, which demonstrated that basal and luminal epithelial cells of Warthin tumor bear characteristics similar to those of the basal cells and striated duct cells of the excretory duct of the salivary gland., Epidemiology : It represents about 2% to 15% of all primary epithelial tumors of the parotid gland., "Warthins tumor was diagnosed histologically in 42 (30%) of 138 primary parotid gland tumors, ", variable, There’s no way to prevent salivary gland cancer. You can reduce your overall cancer risk by avoiding certain risk factors, like smoking and drinking too much alcohol., Complications : local recurrence, Malignant transformation, Diagnostics : MRI, USG, Differential diagnosis : Acinic cell carcinoma, Cystadenoma, Cysts, METASTASES AT DIFFERENT SITES, Squamous cell carcinoma, disease description : Warthin tumor is a relatively frequent and benign neoplasm of the major salivary glands. It is histologically characterized by a dense lymphoid stroma and a double layer of oncocytic epithelium with a papillary and cystic architectural pattern.

Warty Tuberculosis

Disease Name : Warty Tuberculosis, Symptoms : "Warty tuberculosis : Tuberculosis verrucosa cutis (warty tuberculosis) occurs after direct inoculation of tubercle bacilli into the skin of someone who has been previously infected and developed good immunity. It was called prosectors wart when it followed accidental injury in the autopsy room. Orificial tuberculosis (tuberculosis cutis orificialis) follows autoinoculation from advanced internal disease depositing tubercle bacilli at mucocutaneous junctions such as around the nose and mouth.", Cutaneous tumour lesions : Direct inoculation of the skin or mucous membranes with tubercle bacilli from an outside source results in a tuberculous chancre. Children are predominantly affected. The face, hands, and legs are the commonest sites involved. The tuberculous chancre appears 1-4 weeks after inoculation, presenting initially as a firm red papule which becomes a painless shallow ulcer with a granular base and undermined edge. Sporotrichoid lesions and enlarged regional lymph nodes can develop., Signs : nan, Treatment : Treatment should follow the appropriate current guidelines for the ,treatment of tuberculosis of other organs, taking into account the ,degree of systemic involvement, the immune status of the patient ,and the existence of MDR forms of tuberculosis., Pathophysiology : Warty tuberculosis occurs by exogenous inoculation of bacteria in previously sensitized individuals. This commonly occurs by accidental inoculation from extraneous sources particularly in healthcare workers; it also known as ‘anatomist’s warts’, ‘prosector’s warts’ and ‘verruca necrogenica’. It can also occur by autoinoculation with sputum in a patient with active tuberculosis. It was the predominant form of tuberculosis in the Chinese in Hong Kong in the 1960s when children were nursed with open nappies and became infected from sputum from sitting on the ground. Persons walking barefoot where the organism is present may similarly become infected. Histopathology : There is a striking pseudoepitheliomatous hyperplasia with superficial abscess formation. The intense, mixed infiltrate may show only sparse tuberculosis foci. Bacilli are seen only occasionally. Lesions occur on those areas exposed to trauma and to infected sputum or other tuberculous material. In Europe, the lesions are most likely to occur on the hands, but in Asia the knees, ankles and buttocks are mainly involved. The lesions are typically asymptomatic and start as a small, indurated, warty papule with a slight inflammatory areola. By gradual extension, a verrucose plaque is formed. Irregular extension at the edges leads to a serpiginous outline with finger-like projections. The centre may involute, leaving a white atrophic scar, or the whole lesion may form a massive, infiltrated, papillomatous excrescence. The colour is purplish, red or brown. The consistency is generally firm, but there may be areas of relative softening. Pus may sometimes be expressed from these soft areas or from fissures. The lesions may resemble lupus vulgaris but the sites are different. The appearance may be psoriasiform or keloidal. Occasionally, exudate and crusting are predominant. Very rarely, multiple lesions implying multiple inoculations, sporotrichoid spread and also tuberculous lymphadenitis can occur., Epidemiology : 0.1% of total patients attending the dermatology outpatient department, 1% to 1.5% of extrapulmonary tuberculosis, variable, 1. Prevention of cutaneous tuberculosis involves BCG vaccination; identification, separation, and treatment of the person who is a source of infection; and use of sterilized instruments, along with other steps.,,2. As immunodeficiency is the biggest cause of skin tuberculosis, one should try to avoid it by controlling diabetes and other diseases. ,,3. In cases where drug therapy is the cause of immunodeficiency, pretesting and treating latent tuberculosis with antibiotics are indicated., Complications : LUPUS VULGARIS, Scrofuloderma, Diagnostics : biopsy, PCR, Interferon Gamma Release Assay (IGRA), Differential diagnosis : Blastomycosis dermatology, Chromoblastomycosis, Coccidioidomycosis, glossitis, Granulomatous rosacea (synonym : lupus miliaris disseminatus faciei, acne agminata), Wegener granulomatosis, disease description : This is an indolent, warty, plaque-like form of tuberculosis caused by exogenous inoculation of M. tuberculosis into the skin through open wounds or abrasions in previously infected or sensitized individuals who will have a moderate or high degree of immunity. There are usually few organisms in the lesion (paucibacillary). Worldwide the incidence of tuberculosis verrucosa cutis is extremely variable but appears to be commonest in Asia.

Watering Eye

Disease Name : Watering Eye, Symptoms : WATERING EYE : Eyes that feel too wet or watery. Tears running down your face. Tears building up in your eyes when you’re not crying or laughing., Signs : nan, Treatment : Home remedies include : ,,taking a break from reading, watching TV, or using the computer,lubricating the eyes with eye drops, available to purchase OTC or online,holding a warm, damp cloth over the affected eye or eyes and massaging the eyelid to release any blockages,using an OTC medication to relieve allergy symptoms,using a sanitized eye wipe to remove any dirt and debris from the eyes and eyelids, Watering due to viral conjunctivitis typically improves on its own, whereas doctors treat bacterial conjunctivitis with antibiotic drops., Blocked tear ducts : Surgery can create a new channel from the tear sac to the inside of the nose. This allows the tears to bypass the blocked part of the tear duct. This surgical procedure is called dacryocystorhinostomy., Pathophysiology : Tear Production Imbalance : Tears are produced by the lacrimal glands, located under the upper eyelids. A disruption in the balance of tear production can lead to watering eyes. This imbalance can result from various causes, including : Dry Eye Syndrome : Paradoxically, inadequate tear quality or quantity caused by dry eyes can trigger excessive tearing. In response to ocular surface dryness, the eyes may produce reflex tears to compensate, leading to watering eyes.Irritation or Inflammation : Any irritation, inflammation, or foreign body sensation on the ocular surface can stimulate increased tear production as a protective mechanism, leading to watering eyes.Obstruction of Tear Drainage : After they are produced, tears normally drain into the tear drainage system, which includes the puncta (tiny openings at the inner corners of the eyelids), the canaliculi (narrow channels that carry tears), the lacrimal sac, and the nasolacrimal duct. Obstruction at any point along this drainage pathway can cause tears to accumulate on the ocular surface, leading to watering eyes. Common causes include : Nasolacrimal Duct Obstruction : Blockage or narrowing of the nasolacrimal duct, which drains tears into the nasal cavity, can prevent proper drainage of tears and result in watering eyes. This can be congenital (present at birth) or acquired due to infections, trauma, or inflammation.Eyelid Malposition : An abnormal position of the eyelids, such as ectropion (outward turning) or entropion (inward turning), can affect the proper functioning of the puncta and lead to tear overflow onto the cheeks.Reflex Tear Production : The eyes can produce reflex tears in response to various stimuli, even if tear production is otherwise normal. These reflex tears are produced in response to factors such as bright light, wind, temperature changes, and irritants. Excessive reflex tear production can result in watering eyes., Epidemiology : The prevalence rate of the disease is 8.60%, GOOD, Depending on what’s causing your watery eyes, there might not be any way to prevent them. If your eyes are irritated by something in the air, or you’re experiencing allergy symptoms, you probably can’t avoid watery eyes.,,Make sure to wear all the proper equipment — including eye protection or goggles — for any work or activity that might hurt your eyes.,,If you can, avoid your allergy triggers.,,Talk to your provider about ways you might be able to prevent watery eyes in the future., Complications : infection, dry eye syndrome, Diagnostics : Regurgitation test, Dacryocystography, Fluorescein dye disappearance test (FDDT), Lacrimal syringing test, Jones dye tests, Radionucleotide dacryocystography, Differential diagnosis : allergic rhinitis, allergies, blepharitis, conjunctivitis, dry eye syndrome, ECTROPION, Glaucoma, infection, KERATITIS, obstruction, Polyps, punctal stenosis, Scarring, trichiasis, disease description : Watering eye, also known as epiphora or tearing, is a condition in which there is an overflow of tears onto the face, often without a clear explanation.Watery eyes can be due to many factors and conditions.In infants, persistent watery eyes, often with some matter, are commonly the result of blocked tear ducts. The tear ducts dont produce tears, but rather carry away tears, similar to how a storm drain carries away rainwater. Tears normally drain into your nose through tiny openings (puncta) in the inner part of the lids near the nose. In babies, the tear duct may not be fully open and functioning for the first several months of life.In older adults, persistent watery eyes may occur as the aging skin of the eyelids sags away from the eyeball, allowing tears to accumulate and flow out.Sometimes, excess tear production may cause watery eyes as well.Allergies or viral infections (conjunctivitis), as well as any kind of inflammation, may cause watery eyes for a few days or so

Web Space Infection

Disease Name : Web Space Infection, Symptoms : Localised pain : Subfascial web space infections present with pain and swelling on the dorsum and palmar surfaces of the hand., restricted finger motion : Common symptoms and signs of deep space infections include pain when moving certain parts of the hand., Signs : nan, Treatment : Alternatively, careful longitudinal incisions into both palmar and dorsal surfaces of the space may be carried out. It should be combined with rigorous post-operative physiotherapy. Packing the wound open may assist the early stages of physiotherapy., In the early stage, conservative treatment,may abort the infection. In late stage, drainage of,the pus is required. The web space abscess is,drained by a transverse incision on the palmar,surface over the affected web space.The edges of the wound are cut away,so as to leave a diamond-shaped opening. When,the abscess communicates with a dorsal pocket, ,a counter-incision is advisable on the dorsum of,the hand., The treatment is surgical drainage in conjunction with anti-Staphylococcal antibiotics. An approach via an adjacent skin crease is recommended, as postoperative web space contracture can occur. Pus should be cultured and antibiotics modified according to sensitivity., Pathophysiology : In all closed spaces of the hand, accumulation of purulent material is raising the pressure, compromising the blood flow, and causing ischemia and necrosis. These conditions are further aggravating the infection, establishing a vicious circle. Direct inoculation (epithelium lysis), spread from the adjacent necrotic tissues or through the lymphatic pathway, could result in the establishment of hand infections., Epidemiology : Bilateral TWI was found in 50% of the patients, 33% had recurrent infections, good, Maintain hygiene and avoid traumatic injuries, Complications : sepsis, Tissue necrosis, Diagnostics : X RAY AP VIEWS, USG, Differential diagnosis : CELLULITIS, Herpetic whitlow, Paronychia, pyoderma gangrenosum, disease description : Infections of the web space account for 4% of hand infections presenting to hospitals. Suppuration can spread along the volar aspect of related fingers or to adjacent web spaces across the anterior aspect of the palm. The usual infecting organism is Staphylococcus via a perforating injury.

Wegeners Granulomatosis

Disease Name : Wegeners Granulomatosis, Symptoms : numbness of the extremities : Numbness in your limbs, fingers or toes, dyspnea : Patients will often present with dyspnea and sometimes with cough. Although wheezing can be present, lung auscultation can also be normal., DISCHARGE : Pus-like drainage with crusts from your nose, stuffiness, sinus infections and nosebleeds., bladder dysfunction : Beside the risk of developing haemorrhagic cystitis associated with WG, a large body of evidence suggests that administration of cyclophosphamide is linked to an increased risk for bladder cancer in patients with WG., Upper respiratory tract infecton : It most commonly involves the upper respiratory tract causing symptoms such as fever, wheezing & weight loss., Palpable purpura : WG causes small purple or red dots on the lower extremities known as palpable purpura., COUGHING : Coughing, sometimes with bloody phlegm., Ocular symptoms : Includes eye redness, burning or pain, and vision problems., Signs : nan, Treatment : medication : Azathioprine , Cyclopentolate , The best treatment approach requires team collaboration between different medical specialties in order to cover the different organs involved by the disease. Because of the importance of systemic therapy, a brief overview of current regimens will be discussed. Historical systemic treatment included a variety of modalities such as antibiotics, chelating agents and local irradiation,Adding cyclophosphamide to corticosteroid therapy altered the prognosis of the disease and resulted in remission and extension of the survival rate, Pathophysiology : The pathophysiology of Wegeners granulomatosis includes the development of granulomatous inflammation within blood vessels, especially in the respiratory tract and the kidneys. The exact pathogenic mechanisms of Wegeners granulomatosis are still unclear. Initially, there is an inflammatory event that elicits a specific pathologic immune response that causes an up-regulation in the production of anti-neutrophil cytoplasmic antibodies, or c-ANC A. The c-ANCA autoantibodies interact with activated neutrophils and endothelial cells within blood vessel walls, causing vessel inflammation and damage. This hampers the flow of oxygen and nutrients, resulting in tissue ischemia and necrosis Yi and Colby (2001), Sercombe (2002)., Epidemiology : Based on a pooled analysis, the prevalence rates are 13.7 and 3.6 per 100, 000, respectively, 3 cases per 100, 000 people., GOOD, There is no known prevention for the disease as of now., Complications : Hearing loss, skin scarring, Diagnostics : Erythrocyte Sedimentation Rate (ESR), SERUM Creatinine, X RAY CHEST, biopsy, CT SCAN, Urine analysis, Differential diagnosis : amyloidosis, "Castlemans disease", Infective endocarditis, lymphomas, Sarcoidosis, sepsis, disease description : It is a systemic disorder of unknown aetiology involving mainly the upper airways, lungs, kidneys and the skin. It should be differentiated from nonhealing midline granuloma because the treatment of the two is quite different.

Whipples Disease

Disease Name : Whipples Disease, Symptoms : Gastrointestinal symptoms : Includes diarrhea, stomach cramping and pain, which may worsen after meals, weight loss, associated with the malabsorption of nutrients., hyperpigmentation of the skin : Hyperpigmentation may occur as a consequence of vitamin D malabsorption, which may induce compensatory secondary hyperparathyroidism leading to enhanced MSH and ACTH production., respiratory symptoms : Includes fever, cough, lung damage., Neurological symptoms : Includes balance problems, dysphasia. seizures, cortical blindness, cranial nerve disturbances including trigeminal neuralgia, brainstem, and cerebellar signs, vision abnormalities : Vision problems, including lack of control of eye movements., Signs : nan, Treatment : medication : Hydroxychloroquine , Chloroquine , Meropenem , Ceftriaxone , Doxycycline , Tetracycline , "In most cases, Whipple disease therapy begins with two to four weeks of ceftriaxone or penicillin given through a vein in your arm. Following that initial therapy, youll likely take an oral course of sulfamethoxazole-trimethoprim (Bactrim, Septra) for one to two years", Pathophysiology : Since rates of exposure to T. whipplei, as defined by seroprevalence, appear to be much higher than rates of chronic disease development (0.00001%), it has been hypothesized that chronically infected individuals possess a subtle host-defense abnormality. The human leukocyte antigen (HLA) alleles DRB1*13 and DQB1*06 are associated with an increased risk of infection. Chronic infection results in a general state of immunosuppression characterized by an impaired TH1 response, enhanced production of anti-inflammatory cytokines, increased activity of regulatory T cells, M2 polarization of macrophages with diminished antimicrobial activity and impaired phagosome–lysosome fusion and ensuing apoptosis, and blunted development of T. whipplei–specific T cells. Immunosuppressive glucocorticoid treatment or anti–tumor necrosis factor a (anti-TNF-a) therapy appears to accelerate progression of chronic disease and perhaps enables infection in colonized individuals. Asymptomatic HIV-infected individuals have been found to have significantly higher levels of T. whipplei sequence in bronchoalveolar lavage fluid (BALF) than do non-HIV-infected individuals, and these levels decrease with antiretroviral therapy. A weak humoral response, perhaps due to bacterial glycosylation in patients with chronic disease, appears to differentiate persons who clear the bacillus from asymptomatic carriers. In the initiation of chronic infection, the relative importance of the host’s genetic background versus the modulation of the host response by T. whipplei is unknown. T. whipplei has a tropism for myeloid cells, which it invades and in which it can avoid being killed. Infiltration of infected tissue by large numbers of foamy macrophages containing periodic acid–Schiff (PAS)–staining inclusions (representing ingested bacteria) is a characteristic and most common finding. With disease progression, villus atrophy, lymphangiectasia, crypt hyperplasia, and apoptosis of surface epithelial cells are observed in the small intestine, with resultant diarrhea due to decreased absorption and increased leak flux of water and solutes. Occasionally, involvement of lymphatic or hepatic tissue may manifest as noncaseating granulomas that can mimic sarcoid., Epidemiology : a prevalence estimated at 1–3 cases per 1 million , NOT SPECIFIC, "Wearing gloves when working in outdoor soil and water sources is one way to prevent Whipples disease. You may also consider wearing a mask for special situations (for example, sewage workers). You should wash your hands thoroughly after working in dirt, mud or dirty water.", Complications : fatigue, joint pain, weight loss, Nutritional deficiencies, Diagnostics : CSF EXAMINATION, EOSINOPHILS - ABSOLUTE COUNT, Hb, CT Abdomen, USG ABDOMEN(W/A), Antibody Serology Tests, biopsy, ENDOSCOPY, MRI, FDG-PET, CSF PCR, Differential diagnosis : Connective tissue disorders, HIV, hyperthyroidism, INFLAMMATORY BOWEL DISEASES, TUBERCULOSIS, disease description : Whipple disease is a rare bacterial infection that most often affects your joints and digestive system. Whipple disease interferes with normal digestion by impairing the breakdown of foods, and hampering your bodys ability to absorb nutrients, such as fats and carbohydrates.

White Piedra

Disease Name : White Piedra, Symptoms : Hair Thinning : White piedra leads to brittle, broken hair & hair that feels gritty., itching : Scalp itching is intense in affected individuals., NODULES : White piedra is characterized by the presence of soft, white or light brown nodules along the hair shafts. It may occur on the scalp, eyebrows, eyelashes, beard, axilla or in the groin., Signs : nan, Treatment : medication : Itraconazole , Ketoconazole , Salicylic acid , shaving or cutting the hair may effect a cure, Responses to concentrated topical antifungals, azoles and allyamines have been reported but are unpredictable., Pathophysiology : There is evidence that some cases may be sexually transmitted. In addition, it has been postulated that the bacteria known to accompany the concretions of the fungi on hair, now identifi ed as a new species of Brevibacterium, B. mcbrellneri, may have a synergistic role in the infection. The strong proteolytic activity of the bacterium may facilitate hair shaft invasion by both yeasts and bacteria, while fungal by-products may stimulate bacterial growth. There is an increased carriage rate of perianal ‘ G. beigelii ’ reported in HIV-positive individuals, suggesting that this region may provide a reservoir for carriage. Interestingly, there does not appear to be an increased incidence of hair shaft infection in these patients. White piedra is characterized by the presence of soft, white or light brown nodules. The infection is more common on the hairs of the beard, moustache and genital areas than the scalp. The fungus grows both within and outside the hair shaft, and the hair shaft may be weakened and break off. The nodules are transparent, easily detached from the hair and vary in size from microscopic to 1 mm in diameter., Epidemiology : It has a marked prevalence in women and in subjects aged < 15 years, variable, White piedra infections will often come back, especially when they can pass between family members. Reinfection is usually the result of sharing combs, hair products or accessories, pillows, and linens.,,Several measures can help prevent a person from both initial infection and reinfection with white piedra. These measures include : ,,avoiding sharing brushes, combs, and other hair accessories,wearing loose cotton underwear and changing twice if prone to excessive perspiration during the summer months or in humid conditions,using aluminum chloride hexahydrate (Drysol) to help minimize excessive sweating,drying the skin and hair thoroughly after bathing,drying the scalp hair completely before tying, wrapping, or covering the hair,cleaning all clothing, bedding, and towels that come into contact with the affected areas of hair, Complications : Recurrent infection, Diagnostics : Fluorescence with Wood’s light, Differential diagnosis : Black piedra, Monilethrix, Pediculosis, Pediculosis, Tinea capitis, Trichomycosis axillaris, Trichorrhexis nodosa, disease description : White piedra (WP) is a superficial mycosis caused by the yeast fungi of the genus Trichosporon. It is a rare and asymptomatic infection that affects stem hair in the form of adherent, soft, whitish concretions or nodules, especially in the head and to a lesser extent the beard, moustache, eyelashes, armpits, and pubisThis is a fungal infection confi ned to the hair shafts and resulting in the formation of soft, white, grey or brown superfi cial nodules caused by Trichosporon species.

White Sponge Naevus

Disease Name : White Sponge Naevus, Symptoms : discomfort : The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort., plaques : White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular : nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi., Signs : nan, Treatment : . Reassurance is all that is required, although some have suggested that tetracyclines might clear the lesions. The family may be aware ,of the condition, Pathophysiology : Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. The keratin 4 protein (produced from the KRT4 gene) and the keratin 13 protein (produced from the KRT13 gene) partner together to form molecules known as intermediate filaments. These filaments assemble into networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses., Epidemiology : prevalence rate below 1 in 200, 000, variable, This condition is inherited in an autosomal dominant pattern. It occurs because of a genetic mutation in the KRT4 or KRT13 gene. You can’t prevent it from happening.,,Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to see if you’re at risk of having a child with a genetic condition., Complications : infection, Diagnostics : HISTOPATHLOGY, GENETIC TESTING, Differential diagnosis : Dyskeratosis congenita, leukoplakia, Lichen Planus, disease description : White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular : nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa).

Wilms Tumor

Disease Name : Wilms Tumor, Symptoms : urinary tract infections : Urinary tract infection and varicocele are less common findings than these., anorexia : Anorexia is a common concomitant of cancer. Anorexia in cancer has many causes, but the primary cause is often an increase in pro-inflammatory cytokines or an increase in lactate. These two factors then modulate central nervous system neurotransmitter cascades., fever : A temperature of 103-105 °F fever is often experienced by the affected individuals., Abdominal Pain : Pain in the abdomen occurs from pressure on other organs near the tumor., "hematuria : A typical intrarenal Wilms tumor presents with microscopic hematuria in only about 25% cases.", Signs : ANIRIDIA : The deletion of one copy of the PAX6 gene is responsible for aniridia., "hypertension : Wilms tumor with hyperreninemia produces vasoconstriction and fluid retention that leads to sustained hypertension.", ABDOMINAL MASS : Wilms tumor usually presents as an asymptomatic abdominal mass in the majority of children., hemihypertrophy : Wilms tumors are one of types of tumors that are more commonly linked to hemihypertrophy., anemia : Abundant hemosiderin in the tumor cells is evidence that tumor cells removed iron from the circulation, causing the iron deficiency anemia., Treatment : preoperative chemotherapy is given to all patients > 6 months of age, followed by surgery/nephrectomy followed by systemic chemotherapy, Postoperative radiation may or may not be administered depending on tumor histology and extent of spread., usually nephrectomy, Pathophysiology : Nephrogenic rests are precursor lesions.2 main types of nephrogenic rests : Perilobar nephrogenic restsIntralobar nephrogenic rests, Epidemiology : Most common : 3 - 4 years of age, tumor histology and stage are important prognostic, There’s nothing you or your child can do to cause or prevent Wilms tumor., Complications : hypertension, kidney damage, Metastasis, Diagnostics : MRI, CT SCAN, USG, immunohistochemistry, Histopathological examination, Differential diagnosis : Ewing sarcoma, Nephrogenic rests, NEUROBLASTOMA, NEUROBLASTOMA, Renal medullary carcinoma, sarcoma, tumors, disease description : Wilms tumor, or nephroblastoma, is the most common renal cancer in the pediatric age group.It is a malignant embryonal tumor originating from nephrogenic blastema, which imitates the histology of develWilms tumor is a rare kidney cancer that mainly affects children. Also known as nephroblastoma, its the most common cancer of the kidneys in children. Wilms tumor most often affects children ages 3 to 4. It becomes much less common after age 5, but it can affect older children and even adults.Wilms tumor mostly occurs in just one kidney. But it can sometimes be in both kidneys at the same time.Over the years, progress in the diagnosis and treatment of Wilms tumor has greatly improved the prognosis for children with this disease. With treatment, the outlook for most children with Wilms tumor is goodoping kidney. 

Wilsons Disease

Disease Name : Wilsons Disease, Symptoms : "Arthritis : The pathophysiology underlying arthritis in patients with Wilsons disease may be related to copper deposition in the cartilage of the articular surface.", hepatitis : People with Wilson disease often develop symptoms of hepatitis and can have an abrupt decrease in liver function (acute liver failure). These symptoms may include fatigue, nausea, vomiting, poor appetite, pain over the liver, in the upper part of the abdomen, dark urine, light color stool & jaundice., mental changes : Symptoms of Wilson disease that affect a person’s mental health include anxiety, changes in mood, personality, depression, psychosis., Neurological symptoms : Includes problems with speech, swallowing or physical coordination, stiff muscles, tremors., Ocular symptoms : Many people with Wilson disease have green, gold or brown rings around the edge of the corneas in their eyes (Kayser-Fleischer rings). A buildup of copper in the eyes causes the Kayser-Fleischer rings. Your healthcare provider can see these rings during a special eye exam called a slit-lamp exam. Most people diagnosed with Wilson disease who have symptoms that affect their nervous system also have Kayser-Fleischer rings., "kidney stone : Wilsons disease can damage the kidneys, leading to problems such as kidney stones.", "cardiac disorders : It is concluded that four modes of cardiac manifestations in Wilsons disease include arrhythmias, cardiomyopathy, cardiac death, and autonomic dysfunction.e pathophysiology underlying arthritis in patients with Wilsons disease may be related to copper deposition in the cartilage of the articular surface.", Signs : ascites : Some people with Wilson disease have symptoms only if they develop chronic liver disease and complications from cirrhosis leading to bloating from a buildup of fluid in the abdomen., Treatment : medication : Trientine dihydrochloride(TETA), Zinc/Zinc Sulphate, The mainstay therapy for Wilson disease is copper chelation therapy with penicillamine and trientine. Trientine is preferred because of fewer side effects. Oral zinc also may be given as it competes for absorption with copper at metallic ion transporter. It is vital to educate the patient on the adverse effects of chronic chelation therapy which can make symptoms worse. D-penicillamine can be used during pregnancy and does not pose any risk to the fetus, Liver transplantation seemed to have been beneficial in improving neurological dysfunction in some patients not responding adequately to medical therapy in a French study,If the patient develops liver cirrhosis and its associated complication, Transjugular intrahepatic portosystemic shunt(TIPS) can be offered for recurrent variceal bleed. Liver transplantation is curative., Pathophysiology : ATP7B protein deficiency impairs biliary copper excretion, resulting in positive copper balance, hepatic copper accumulation, and copper toxicity from oxidant damage. Excess hepatic copper is initially bound to metallothionein; liver damage begins as this storage capacity is exceeded, sometimes by 3 years of age. Defective copper incorporation into apoceruloplasmin leads to excess catabolism and low blood levels of ceruloplasmin. Serum copper levels are usually lower than normal because of low blood levels of ceruloplasmin, which normally binds >90% of serum copper. As the disease progresses, nonceruloplasmin serum copper (“free” copper) levels increase, resulting in copper buildup in other parts of the body (e.g., in the brain, with consequent neurologic and psychiatric disease)., Epidemiology : 1 in 30, 000–40, 000, After liver transplant, the prognosis is good. A s, You can’t prevent Wilson disease since it’s the result of an inherited genetic mutation. If you have a family history of Wilson disease, talk with your healthcare provider about genetic testing to understand your risk of developing Wilson disease or having a child with this genetic condition., Complications : CIRRHOSIS, encephalopathy, hepatitis, liver failure, hepatorenal syndrome, Diagnostics : Ceruloplasmin test, HISTOPATHLOGY, Serum Bilirubin (Total ), SERUM COPPER, serum albumin, MRI, MRI, CT SCAN, Differential diagnosis : anemia, Chronic active hepatitis, "Huntingtons disease", disease description : Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, which encodes a membrane-bound, copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver and the brain. Because effective treatment is available, it is important to make this diagnosis early.

Winchester Syndrome

Disease Name : Winchester Syndrome, Symptoms : coarse facial features : Coarse facial features can include a large head; flat, broad nose with a fleshy tip; large lips; large tongue (macroglossia); and irregularly spaced teeth or extra teeth. Patients also present with large, inflamed gums, also known as hypertrophic gums., CORNEAL OPACITIES : Clouding of the cornea may be observed in those affected with this syndrome and can cause vision problems or vision loss., heart disease : About one third of those affected with Winchester syndrome are born with a heart defect; these heart defects may include transposition of the great arteries, atrial septal defect, ventricular septal defect, bicuspid valves, or mitral valve prolapse. There should be ongoing surveillance of the heart through EKG (electrocardiogram) as heart murmurs may occur., skeletal abnormalities : The primary symptoms of Winchester syndrome are skeletal changes that involve thinning or weakening of the bone (multifocal osteoporosis), loss of bone tissue (progressive osteolysis), low bone mineral density (osteopenia) and joint issues (arthropathy) which encompass degenerative changes in the hands, feet, elbows, shoulders, knees, hips and spine. Due to loss of bone tissue and density, fractures may be more prevalent. Age of onset varies from 3 months to 22 years., short stature : The accumulation of these skeletal abnormalities leads to short stature in the affected individual., cutaneous symptoms : Skin findings include thickened hyperpigmentation such as thick and darkened patches of skin and/or over growth of hair on the skin., Signs : Osteolytic lesions : The beginning signs of this syndrome are osteolysis particularly of the hands and feet which causes pain and limited movement., Treatment : No specific therapies are reported and treatment is aimed at symptomatic relief., Pathophysiology : Mutations in matrix metalloproteinase 14 (MMP14/MT1MMP) decrease the membrane location of the metalloproteinase resulting in impairment of MMP2 activation . It is known in mouse fibroblasts that this leads to a reduced ability to degrade type I collagen . Pathology The changes in the dermis are variable and may relate to the stage of evolution of the disease. In a young patient, fibroblastic proliferation was present in the deep dermis, whilst an older patient exhibited only swirling masses of abnormal collagen with a paucity of fibroblasts throughout the entire depth of the dermis. In both patients a lymphocytic perivascular infiltrate was present. On electron microscopy, mitochondrial abnormalities are present in dermal fibroblasts and include swelling, degeneration and vacuolization. Genetics Winchester syndrome is an autosomal recessive condition due to mutations in MMP14, encoding for a matrix metalloproteinase. Previously, Torg syndrome, multicentric osteolysis, nodulosis and arthropathy (MONA) and Winchester syndrome were considered allelic but with the identification of causal mutations in the MMP14 gene exclusive to Winchester syndrome, this is no longer the case., Epidemiology : Winchester syndrome is a rare condition whose prevalence is unknown. It has been reported in only a few individuals worldwide., variable, This condition is inherited in an autosomal recessive pattern. It occurs because of a genetic mutation in the MMP14 gene (also known as MT1-MMP). You can’t prevent it from happening.,,Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to see if you’re at risk of having a child with a genetic condition., Complications : hyperpigmentation, short stature, cataracts, Diagnostics : X RAY, Differential diagnosis : Arthritis, Juvenile hyaline fibromatosis, Scleroderma crisis, disease description : This is one of several rare syndromes causing thickened stiff skin, osteolysis, joint contractures, as well as other features, in early life.Winchester syndrome is included in the heterogeneous group of inherited osteolyses, or ‘vanishing bone’ syndromes. Bone and joints abnormalities are the main features seen.

Wiskott-aldrich Syndrome

Disease Name : Wiskott-aldrich Syndrome, Symptoms : "auto-immune disorders : People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, such as rheumatoid arthritis, vasculitis, or hemolytic anemia. These disorder occur when the immune system malfunctions and attacks the bodys own tissues and organs.", Skin disorders : Atopic symptoms are frequently present, and eczema develops in 80% of these patients. Severe eczema requires aggressive therapy. The eczema may improve as the patient gets older, although serious complications such as secondary infection (eg, cellulitis, abscess) or erythroderma can occur., petechial rashes : Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae., Signs : Thrombocytopenia : Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting. This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma., Treatment : medication : Rituximab, Human normal immunoglobulin , Eltrombopag, Gene therapy is an alternative, potentially curative therapy under investigation for WAS, immunoglobulin,replacement & treatment of choice is HSCT ( Hematopoietic stem cell transplantation), Aggressive management of eczema and,associated cutaneous infections., Elective splenectomy has been advocated in selected patients to reverse the thrombocytopenia and arrest the bleeding tendency by increasing the number of circulating platelets. Patients who undergo splenectomy require lifelong antibiotic prophylaxis and are at increased risk of septicemia., Pathophysiology : Wiskott-Aldrich syndrome is the result of an X-linked genetic defect in the WAS gene located on short arm of the X-chromosome at Xp 11.22-23 position. The gene product Wiskott-Aldrich protein (WASp) is a 502 amino acid protein expressed in the cytoplasm of non-erythroid hematopoietic cells.  More than 300 gene mutations have been identified leading to impaired protein configuration. The most common mutations are missense mutations followed by non-sense, splice site and short deletion mutations. Because of the wide range of genetic mutations, the disease itself has phenotypic variability ranging from severe (classic WAS) to mild disease X linked thrombocytopenia and X linked neutropenia., Epidemiology : This X-linked disorder demonstrates an estimated incidence of 1 in every 100000 live births. It is seen almost exclusively in males. There is no ethnic or geographical predominance. The condition may be under-reported because of misdiagnosing of mild cases as idiopathic thrombocytopenia purpura., Wiskott-Aldrich syndrome has a poor prognosis, This condition is inherited in an X-linked pattern. It occurs because of a genetic mutation in the WAS gene. You can’t prevent it from happening.,,Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to see if you’re at risk of having a child with a genetic condition., Complications : sepsis, vasculitis, leukemia, lymphoma, hemorrhage, Diagnostics : HISTOPATHLOGY, PLATELET COUNT, SERUM IMMUNOGLOBULINS, Differential diagnosis : Atopic dermatitis, Neutropenia, thrombocytopenic purpura, disease description : Wiskott-Aldrich syndrome is a rare X-linked disorder with a characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding Wiskott-Aldrich syndrome protein (WASp) affecting the immune system and inducing a state of immunodeficiency. The disease follows a broad spectrum depending on gene mutations ranging from severe phenotype (classic WAS) to milder ones (X-linked thrombocytopenia (XLT) and X-linked neutropenia).

X Linked Agamaglobulinemia

Disease Name : X Linked Agamaglobulinemia, Symptoms : Gastrointestinal symptoms : Enteritis is the most common GI manifestation, occurring in majority of patients. Diarrhea was reported as a dominant symptom in the majority of patients., Bacterial infection : Affected children experience frequent bacterial infections in childhood, including bronchitis, otitis media, sinusitis, pneumonia., Signs : no palpable lymph nodes : People with X-linked agammaglobulinemia usually have small or missing lymph nodes due to their underdeveloped immune systems., tonsil atrophy : Tonsils are absent in affected individuals due to their underdeveloped immune systems., Treatment : "Gammaglobulin. This is a type of protein found in blood that contains antibodies against infections. Its given by infusion into a vein every two to four weeks or by weekly injection.,Antibiotics. Some people with XLA receive continuous antibiotics to prevent infections. Others take antibiotics for bacterial infections longer than people without XLA do.", The mainstay of treatment is gammaglobulin substitution therapy (by weekly subcutaneous injection or intravenous infusion every 2-4 weeks) to prevent bacterial infections; some centers use chronic prophylactic antibiotics to prevent infections., Pathophysiology : X-linked agammaglobulinemia is caused by a genetic mutation. People with the condition cant produce antibodies that fight infection. About 40% of people with the condition have a family member who has it., Epidemiology : Prevalence of X-linked agammaglobulinemia is approximately 3 : 1, 000, 000-6 : 1, 000, 000 males in all racial and ethnic groups., variable, If you’re concerned about XLA, a healthcare provider can screen you for genetic conditions you could pass on to your child. If you’re a woman or person AFAB and a carrier of the mutation that causes XLA, you have a 50% chance of passing the mutation to a son, who would have XLA. If you have XLA and are a man or person AMAB, your daughters would be carriers. A genetic counselor or the provider who ordered the testing can advise you on your options if you’re a carrier or have XLA., Complications : infectious arthritis, chronic lung disease, Diagnostics : serum IgE level, SERUM IgG ANTIBODY, SERUM IgM ANTIBODY, IgA ANTIBODY, lymph node examination, Differential diagnosis : Autosomal recessive agammaglobulinemia (ARA), Common variable immunodeficiency disease (CVID), Transient hypogammaglobulinemia of infancy (THI), disease description : X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis.

X Linked Lymphoproliferative Disease

Disease Name : X Linked Lymphoproliferative Disease, Symptoms : aplastic anaemia : Aplastic anemia is characterized by a marked deficiency of all types of blood cells (pancytopenia) including low levels of red blood cells, certain white blood cells, and platelets, specialized red blood cells that function to assist appropriate blood clotting. In individuals with XLP, a decrease in platelets (thrombocytopenia) results in increased susceptibility to bruising and excessive bleeding (hemorrhaging)., infections : Approximately half of individuals with X-linked lymphoproliferative syndrome experience severe, life-threatening mononucleosis characterized by fever, inflammation and soreness of the throat (pharyngitis), swollen lymph glands, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or abnormal functioning of the liver, resulting in yellowing of the skin, mucous membranes, and whites of the eyes (jaundice or icterus). In some cases, individuals who experience life-threatening mononucleosis infection may subsequently have an abnormal increase (i.e., proliferation) of certain white blood cells (lymphocytes and histiocytes) in particular organs, severe liver damage and/or failure, damage to the blood-cell generating bone marrow (hematopoietic marrow cells) that may result in aplastic anemia, and/or other symptoms that may result in life-threatening complications in affected children or adults., immune deficiency : X-linked lymphoproliferative syndrome (XLP), an extremely rare inherited disorder, is characterized by a range of symptoms and findings that occur due to a defective immune system response to infection with the Epstein-Barr virus (EBV)., lymphoma : Cancers of immune system cells occur in about one-third of people with XLP., Epstein-Barr Virus : EBV infection may cause infectious mononucleosis (IM), usually with no long-lasting effects (benign, self-limited IM). However, males with XLP who are exposed to Epstein-Barr virus may develop severe, life-threatening hepatic (liver) form infectious mononucleosis and hepatitis, abnormally low levels of antibodies or immunoglobulins (hypogammaglobulinemia) in the blood and body secretions, malignancies of certain types of lymphoid tissue (B-cell lymphomas), or other abnormalities., Signs : nan, Treatment : "The treatment of X-linked lymphoproliferative syndrome may require the coordinated efforts of a team of specialists who need to plan, systematically and comprehensively, an affected individuals treatment. Such specialists may include pediatricians and/or internists, specialists in the functioning of the immune system (immunologists), physicians specializing in the diagnosis and treatment of blood disorders (hematologists) or cancers (oncologists), and/or other health care specialists.", Pathophysiology : The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized T cells called natural killer T cells. The SAP protein also helps control immune reactions by triggering self-destruction (apoptosis) of cytotoxic lymphocytes when they are no longer needed.Some SH2D1A gene mutations impair SAP function. Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. The loss of functional SAP disrupts proper signaling in the immune system and may prevent the body from controlling the immune reaction to EBV infection. In addition, lymphomas may develop when defective lymphocytes are not properly destroyed by apoptosis., Epidemiology : Fatal infectious mononucleosis occurs in roughly 50% of cases and many of the surviving patients have hypogammaglobulinaemia (30%), variable, This condition is generally inherited in an X-linked recessive pattern. It occurs because of a new genetic mutation in the SH2D1A and XIAP genes. You can’t prevent it from happening.,,Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to see if you’re at risk of having a child with a genetic condition., Complications : liver damage, lymphoma, Diagnostics : GENETIC TESTING, Differential diagnosis : aplastic anaemia, "Hodgkins lymphoma", infectious mononucleosis, lymphoma, multiple myeloma, disease description : X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system that is powerfully responsive to infection with the Epstein-Barr virus (EBV).

X-linked Chonsrodysplasia Punctata 2

Disease Name : X-linked Chonsrodysplasia Punctata 2, Symptoms : CNS disturbances : Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects., skeletal abnormalities : Almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). The stippling is apparent in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine., short stature : All skeletal deformities involved in X-Linked Chonsrodysplasia Punctata 2 leads to short stature., cutaneous symptoms : Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also have sparse, coarse hair on their scalps., Ocular symptoms : Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). The cornea is the clear front surface of the eye. These eye abnormalities can impair vision., Signs : nan, Treatment : CDPX2 is inherited in an X-linked manner with early gestational male lethality. Women with an EBP germline pathogenic variant have a 50% chance of transmitting the pathogenic variant to each child : EBP pathogenic variants in sons are usually lethal; daughters will have a range of possible phenotypic expression. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low but greater than that of the general population. If the pathogenic variant cannot be detected in the DNA extracted from the leukocytes of either parent of the proband, three possible explanations are germline mosaicism, somatic mosaicism, or a de novo pathogenic variant in the proband. Prenatal diagnosis for pregnancies at increased risk is possible if the family-specific pathogenic variant is known., Treatment is symptomatic and individualized. For individuals with typical CDPX2 diagnosed in the newborn period, the following are appropriate : orthopedic management of leg length discrepancy; frequent assessment of kyphoscoliosis; management of respiratory compromise as per pulmonologist; dermatologic management with emollients and keratolytics; sun protection; cataract extraction and correction of vision; standard interventions for hearing loss and hydronephrosis; family support., Pathophysiology : X-linked chondrodysplasia punctata 2 (CDPX2) is caused by a deficiency of 3-beta-hydroxysteroid-delta(8), delta(7)-isomerase or "sterol-?8-isomerase, " which is encoded by EBP Braverman et al 1999, Derry et al 1999. Sterol-8-isomerase is thought to be an integral endoplasmic reticulum membrane protein that converts 8(9)-cholestenol to lathosterol during cholesterol biosynthesis.Variability in phenotypes among females with CDPX2 is likely attributable to variability in X-chromosome inactivation.Mechanism of disease causation. Loss of function., Epidemiology : fewer than 1 in 400, 000 newborns., variable, This occurs because of a new genetic mutation in the EBP gene. You can’t prevent it from happening. This condition is inherited in an X-linked dominant pattern. ,,Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to see if you’re at risk of having a child with a genetic condition., Complications : cataract, Microphthalmia, microcornea, Diagnostics : Karyotype, GENETIC TESTING, Differential diagnosis : CHILD syndrome (congenital hemidysplasia, ichthyosis, limb defects), systemic lupus erythematosus (SLE), VITAMIN K DEFICIENCY, disease description : X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by genetic changes in the emopamil binding protein gene, EBP. In many cases, this genetic change occurs randomly, for no apparent reason (i.e., new genetic change). The condition is inherited as an X-linked dominant trait and occurs almost exclusively in female

X-linked Endothelial Corneal Dystrophy

Disease Name : X-linked Endothelial Corneal Dystrophy, Symptoms : nystagmus : XECD causes uncontrolled eye movements., Visual acuity is markedly reduced : Males with XECD often present with a decrease in visual acuity, especially with additional ocular manifestations such as congenital haze, subepithelial band keratopathy, and nystagmus., Signs : corneal opacification : XECD causes corneal opacification ranging from a milky, ground glass appearance to diffuse corneal haze., Endothelial changes in form of moon crater-like appearance and peau d’orange texture of cornea : Moon crater-like changes in the endothelium., "band keratopathy : Band Keratopathy is a corneal degeneration that is most often composed of fine dust-like calcium deposits in the sub-epithelium, Bowmans layer and the anterior stroma. It is typically a band-shaped, horizontal opacity that grows from the peripheral cornea towards the central cornea.", Treatment : A penetrating keratoplasty may be indicated in males if corneal opacification impairs vision significantly. Procedures for repairing the posterior surface of the cornea, such as a deep lamellar endothelial keratoplasty (DLEK), Descemet stripping endothelial keratoplasty (DSEK), or Descemet stripping automated endothelial keratoplasty (DSAEK) are technically difficult in young children., Pathophysiology : Male patients have blurring of vision associated with : • Corneal clouding since birth ranging from a diffuse haze to a ground-glass, milky appearance. • Moon crater-like endothelial changes. • Subepithelial band keratopathy combined with moon crater-like endothelial changes. • Nystagmus may be associated. Female patients are asymptomatic having only moon crater-like endothelial changes., Epidemiology : Prevalence of this rare corneal dystrophy is unknown., approximately 0.09% of the population., variable, There are no primary prevention strategies reported in the literature., Complications : nystagmus, blurred vision, Diagnostics : light microscopy, ophthalmoscopy, direct microscopy, Differential diagnosis : Congenital Hereditary Endothelial Dystrophy 2, corneal dystrophy, Posterior Polymorphous Corneal Dystrophy, disease description : X-linked endothelial corneal dystrophy (XECD) occurs congenitally and is a progressive condition in males and non-progressive in females. Genetic locus is Xq25 and the gene involved is unknown. Inheritance is X-chromosomal dominant.

X-linked Ichthyosis (xli)

Disease Name : X-linked Ichthyosis (xli), Symptoms : cryptorchidism : A small percentage of males may experience undescended testes (crytpchordism). These men may be at increased risk for contracting malignancies of the testes., scaling of skin : The skin symptoms generally appear within the first year of life. Brownish scales that adhere to the skin are among the first signs of the disorder. The back and legs are most frequently involved early. The face, scalp, palms and soles, and hollows of the elbows and knees are usually spared., Atrial fibrillation and flutter : Genetic deletions at Xp22. 31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males., Signs : CORNEAL OPACITIES : X-linked ichthyosis patients may also have comma-shaped corneal opacities, which are visible on slit lamp exam but do not affect visual acuity., Treatment : medication : Salicylic acid , Urea , Tazarotene, Acitretin, The medical management is directed at reducing scales, decreasing skin dryness, and improving skin appearance. regular bathing and the use of emollients and keratolytic agents. Petrolatum or humectant-based moisturizers should be applied to damp skin. Topical keratolytics are probably best avoided in the first 6 months of life and should be used with caution if over large body surfaces., Pathophysiology : Absent STS activity in the epidermis causes retention hyperkeratosis. STS hydrolyzes steroid sulfates to their unconjugated (unsulfated) forms and participates in the regulation of barrier permeability and desquamation. The absence of STS activity results in the accumulation of cholesterol sulfate in the stratum corneum, leading to corneocyte cohesion, hyperkeratosis, and impaired skin permeability. A deficiency or absence of STS may be associated with asymptomatic corneal opacities and rarely cryptorchidism. Abnormalities in neurologic and cognitive development and/or anosmia have been described when the deletion encompasses more than one gene (contiguous gene syndrome)., Epidemiology : X-linked ichthyosis is the second most common form of ichthyosis, with ichthyosis vulgaris the most common type., The incidence of X-linked ichthyosis is reported as 1 out of 2500 to 1 out of 6000 males. Three X-linked ichthyosis female cases have been described, all of these patients were offspring of an affected father and a carrier mother., variable, To Do : If cryptorchidism is present, a urology consult is warranted, Complications : necrosis, Diagnostics : GENETIC TESTING, GENETIC TESTING, fluorescent in situ hybridization (FISH), fluorescent in situ hybridization (FISH), Differential diagnosis : Asteatotic eczema, Atopic dermatitis, ichthyosis, Ichthyosis vulgaris, disease description : X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate plays a role in maintaining the integrity of the skin. If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more strongly than usual. The normal shedding of dead skin cells is inhibited and the skin cells build up and clump into scales

Xanthelasma

Disease Name : Xanthelasma, Symptoms : creamy yellow plaque on eyelid : Xanthelasma palpebrarum is a condition in which soft, yellow papules or plaques filled with cholesterol form over the medial canthus of the upper lid. Patients generally present with concerns of their appearance, rather than symptoms of discomfort or inflammation., Signs : nan, Treatment : Excision may be advised for cosmetic,reasons; but recurrences are common., Pathophysiology : Xanthelasma occurs more commonly in middle-aged women. Xanthelasma represents lipid deposits in histiocytes in the dermis of the lid. These may be associated with diabetes mellitus or high cholesterol levels., Epidemiology : prevalence of roughly 1.1% in women and 0.3% in men., GOOD, "You can reduce your risk of xanthelasmas in these ways : ,,Reduce high cholesterol if you have it.,Don’t use tobacco products.,Achieve a weight thats healthy for you.,Treat diabetes and high blood pressure.", Complications : scar, Skin color changes., Diagnostics : GLYCOSYLATED HB % HBAIC, HDL - Cholesterol, HISTOPATHLOGY, Blood Sugar Test, LIVER FUNCTION TEST LFT, THYROID PROFILE, serum cholesterol, Differential diagnosis : Erdheim-Chester disease, milia, Necrobiotic xanthogranuloma, Steatocystoma multiplex, Syringoma, Trichoepithelioma, Wegener granulomatosis, disease description : These are creamy-yellow plaque-like lesions which frequently involve the skin of upper and lower lids near the inner canthus.It is triggered by hyperlipidemia, thyroid dysfunction, and diabetes mellitus. Xanthelasma results from perivascular infiltration of mono- and multinucleated foam cells within lipid-laden cytoplasmic vacuoles in the superficial reticular dermis.Clinically, necrobiotic xanthogranuloma, syringomas, adult-onset asthma and periocular xanthogranuloma (AAPOX), palpebral sarcoidosis, and sebaceous hyperplasia are the main conditions to consider as differential diagnoses.

Xanthinuria

Disease Name : Xanthinuria, Symptoms : Arthropathy : Joint pain and stiffness are features of arthropathy., Myopathy : Myopathy usually occurs in older patients and is related to accumulation of xanthine. The symptoms may include muscle cramps, pain, or tightness in the hands, legs, or jaw. Muscle pain can follow vigorous exercise., Nephropathy : Acute renal failure may be the presenting feature of bilateral obstructing urolithiasis or crystal nephropathy., Renal colic : Renal colic is characterized by sudden onset of severe usually unilateral flank pain that may radiate toward the inguinal area. In young children or infants, renal colic may present as irritability or unexplained abdominal pain., Urinary Tract Infection : The patient may present with gross or microscopic hematuria, pyuria, renal colic, dysuria, urinary frequency, urine incontinence, polyuria, abdominal pain., hematuria : Gross or microscopic hematuria may occur as a result of crystalluria or nephrolithiasis., Signs : nan, Treatment : There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine., Pathophysiology : Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNAand its chemical cousin, RNA. Specifically, xanthine dehydrogenase carries out the final two steps in the process, including the conversion of xanthine to uric acid (which is excreted in urine and feces). Mutations in the XDH gene reduce or eliminate the activity of xanthine dehydrogenase. As a result, the enzyme is not available to help carry out the last two steps of purine breakdown. Because xanthine is not converted to uric acid, affected individuals have high levels of xanthine and very low levels of uric acid in their blood and urine. The excess xanthine can cause damage to the kidneys and other tissues. Hereditary xanthinuria type II results from mutations in the MOCOS gene. This gene provides instructions for making an enzyme called molybdenum cofactor sulfurase. This enzyme is necessary for the normal function of xanthine dehydrogenase, described above, and another enzyme called aldehyde oxidase. Mutations in the MOCOS gene prevent xanthine dehydrogenase and aldehyde oxidase from being turned on (activated). The loss of xanthine dehydrogenase activity prevents the conversion of xanthine to uric acid, leading to an accumulation of xanthine in the kidneys and other tissues., Epidemiology : Hereditary xanthinuria appears to be more common in people of Mediterranean or Middle Eastern ancestry. About 150 cases of this condition have been reported in the medical literature, The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69, 000 people worldwide, variable, This condition is inherited in an autosomal recessive pattern. It occurs because of a new genetic mutation in the XDH gene. You can’t prevent it from happening.,,Talk with your healthcare provider about genetic testing if you plan on becoming pregnant to see if you’re at risk of having a child with a genetic condition., Complications : kidney stone, kidney dysfunction, Diagnostics : URINE R/M, PRNP GENE SEQUENCE, Urine analysis, Differential diagnosis : Hypouricemia, disease description : Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues.

Xerosis Of Conjunctiva

Disease Name : Xerosis Of Conjunctiva, Symptoms : dry eyes : Conjunctival xerosis is characterized by a dull and dry appearance of the conjunctiva and even abnormal conjunctival impression cytology., conjunctival thickening : Edema of the bulbar conjunctiva results in a diffusely translucent, bluish, thickened conjunctiva, conjunctival wrinkling : the clear moist tissue layer that covers the inner eyelids and the white part of your eye — to loosen, wrinkle, and fold, conjunctival pigmentation : The conjunctiva (the transparent skin over the white of the eye) sometimes develops brown discolouration, Signs : nan, Treatment : medication : Carboxymethyl cellulose/ CARBOXYMETHYLCELLULOSE SODIUM, Hypromellose Acetate Succinate/Hydroxypropylmethylcellulose Acetate Succinate, • Treatment of the cause, ,• Symptomatic local treatment with artificial tear,preparations (0.7% methyl cellulose or 0.3%,hypromellose or polyvinyl alcohol), which should,be instilled frequently., Pathophysiology : Normal conjunctiva is kept moist by its own secretions, mucin from goblet cells and aqueous solution from accessory lacrimal glands. Therefore, even if the main lacrimal gland is removed, xerosis does not occur. Depending upon the etiology, conjunctival xerosis can be divided into two groups, parenchymatous and epithelial xerosis. 1. Parenchymatous xerosis. It occurs following cicatricial disorganization of the conjunctiva due to local causes which can be in the form of : • Destructive interstitial conjunctivitis as seen in trachoma, diphtheric membranous conjunctivitis, Steven-Johnsons syndrome, pemphigus or pemphigoid conjunctivitis, thermal, chemical or radiational burns of conjunctiva. • Exposure of conjunctiva to air as seen in marked degree of proptosis, facial palsy, ectropion, lack of blinking (as in coma), and lagophthalmos due to symblepharon. 2. Epithelial xerosis. It occurs due to hypovitaminosis- A. Epithelial xerosis may be seen in association with night blindness or as a part and parcel of the xerophthalmia (the term which is applied to all ocular manifestations of vitamin A deficiency) which range from night blindness to keratomalacia., Epidemiology : GOOD, Complications : nan, Diagnostics : nan, Differential diagnosis : nan, disease description : Xerosis of the conjunctiva is a symptomatic condition in which conjunctiva becomes dry and lustreless.

Yersiniosis

Disease Name : Yersiniosis, Symptoms : Gastrointestinal disturbances : Yersiniosis causes problems in your digestive system. Symptoms of yersiniosis usually appear between four to seven days after coming into contact with the bacteria. They can last up to three weeks. In young children, the most common yersiniosis symptoms are abdominal pain, bloody diarrhea., Pharyngitis : Sore throat is experienced by affected individuals., fever : Yersiniosis causes mild fever in children., Abdominal Pain : Older kids and adults usually have the same symptoms as younger children. But they’re more likely to have abdominal pain on the right side. Many adults with yersiniosis mistakenly believe that they have appendicitis since right-sided abdominal pain is a common sign of that condition., Signs : nan, Treatment : medication : Ceftriaxone , Cefotaxime , Ciprofloxacin , The drugs of choice are the aminoglycosides or trimethoprim-sulfamethoxazole. Other effective agents include tetracycline (not in children), quinolones and cephalosporins., Pathophysiology : The usual route of infection is oral. Studies with both Y. enterocolitica and Y. pseudotuberculosis in animal models suggest that initial replication in the small intestine is followed by invasion of Peyer’s patches of the distal ileum via M cells, with onward spread to mesenteric lymph nodes. The liver and spleen can also be involved after oral infection. The characteristic histologic appearance of enteropathogenic Yersinia after invasion of host tissues is as extracellular microabscesses surrounded by an epithelioid granulomatous lesion. Experiments involving oral infection of mice with tagged Y. enterocolitica show that only a very small proportion of bacteria in the gut invade tissues. Individual bacterial clones from an orally inoculated pool give rise to each microabscess in a Peyer’s patch, and the host restricts the invasion of previously infected Peyer’s patches. A prior model positing progressive bacterial spread from Peyer’s patches and mesenteric lymph nodes to the liver and spleen appears to be inaccurate : spread of Y. pseudotuberculosis and Y. enterocolitica to the liver and colonization and in mice lacking Peyer’s patches. Invasion requires the expression of several nonfimbrial adhesins, such as invasin (Inv) and—in Y. pseudotuberculosis—Yersinia adhesin A (YadA). Inv interacts directly with ß1 integrins, which are expressed on the apical surfaces of M cells but not enterocytes. YadA of Y. pseudotuberculosis interacts with extracellular matrix proteins such as collagen and fibronectin to facilitate host cell integrin association and invasion. YadA of Y. enterocolitica lacks a crucial N-terminal region and binds collagen and laminin but not fibronectin and does not cause invasion. Inv is chromosomally encoded, whereas YadA is encoded on the virulence plasmid pYV. YadA also helps to confer serum resistance in Y. enterocolitica by binding host complement regulators such as factor H and C4-binding protein. Another chromosomal gene, ail (attachment and invasion locus), encodes the extracellular protein Ail, which is the main factor conferring serum resistance in Y. pseudotuberculosis by binding these complement regulators. By binding to host cell surfaces, YadA allows targeting of immune effector cells by the pYV plasmid–encoded type III secretion system (injectisome). As a consequence, the host’s innate immune response is altered; toxins (Yersinia outer proteins, or Yops) are injected into host macrophages, neutrophils, and dendritic cells, affecting signal transduction pathways, resulting in reduced phagocytosis and inhibited production of reactive oxygen species by neutrophils, and triggering apoptosis of macrophages. Other factors functional in invasive disease include yersiniabactin (Ybt), a siderophore produced by some strains of Y. pseudotuberculosis and Y. enterocolitica as well as other Enterobacteriaceae. Ybt allows bacteria to access iron from saturated lactoferrin during infection and reduces production of reactive oxygen species by innate immune effector cells, thereby decreasing bacterial killing. Y. pseudotuberculosis and Y. pestis make other siderophores apart from Ybt., Epidemiology : 1.9 cases per 100 000 population., good, You can lower your risk of yersiniosis by : ,1. Avoiding unpasteurized products. ,2. Being careful with animal waste.,3. Cooking food properly.,4. Preventing cross-contamination.,5. Taking extra precautions while preparing chitlins.,6. Washing your hands., Complications : appendicitis, reactive arthritis, Diagnostics : BLOOD CULTURE test, Gram Staining, STOOL CULTURE, colonoscopy, ELISA, Differential diagnosis : appendicitis, Crohns Disease, diarrhea, DIVERTICULITIS, Food poisoning, INFLAMMATORY BOWEL DISEASES, Mesentric Lymphadenitis, Ulcerative Colitis, disease description : Yersiniosis is an infection caused most often by eating raw or undercooked pork contaminated with Yersinia enterocolitica bacteria.Yersiniosis is an infection caused most often by eating raw or undercooked pork contaminated with Yersinia enterocolitica bacteria. CDC estimates Y. enterocolitica causes almost 117, 000 illnesses, 640 hospitalizations, and 35 deaths in the United States every year. Children are infected more often than adults, and the infection is more common in the winter. 

Yolk Sac Tumour

Disease Name : Yolk Sac Tumour : Polyvesicular Vitelline Tumour, G, Symptoms : vaginal bleeding : The tumor causes abnormal vaginal bleeding., TUMOURS : Within the testes, the tumor is a visible, painless, firm swelling or may lead to precocious puberty. In the ovary it is not as visible and the tumor may grow very large before being noticed. This can lead to abdominal pain, abdominal swelling., Signs : nan, Treatment : The present-day treatment for yolk sac tumors is surgery and chemotherapy. Treatment with cisplatin, etoposide, and bleomycin has shown a good response in most of the patients., Stage 1,,Stage 1 disease can be cured in almost all the cases, and radical inguinal orchiectomy is performed in all patients.,Choices for Stage 1A,Nerve-sparing retroperitoneal lymph node dissection (RPLND).,Stage 2,,Surgery must be done first for all the cases., Pathophysiology : The cause of yolk sac tumors is essentially unknown. Some studies suggest that RUNX3 gene hypermethylation and GATA-4 overexpression may be involved in the pathogenesis of yolk sac tumors., Epidemiology : In males-Yolk sac tumors of the testis have a bimodal age distribution, young children under the age of 3, and post-pubertal adults.,In females-Yolk sac tumors are uncommon neoplasms in the ovary, and they account for 15% of all ovarian germ cell tumors; they present in early life and rarely after the age of 40., variable, Complications : Metastasis, Diagnostics : IMMUNOHISTOCHEMICAL METHOD, CT SCAN, CT SCAN, Serum alpha-fetoprotein, Immunostaining, Differential diagnosis : Embryonal carcinoma, Juvenile granulosa cell tumor, SEMINOMA, disease description : Yolk sac tumors (also known as endodermal sinus tumors) are malignant primitive germ cell tumors; they are histologically similar to the mesenchyma of the primitive yolk sac.Yolk sac tumors are germ cell tumors that resembles the yolk sac, allantois, and extraembryonic mesenchyme. They are also known as endodermal sinus tumors or primitive endodermal tumors

Zellweger Syndrome

Disease Name : Zellweger Syndrome, Symptoms : cardiac dysfunction : Certain heart defects may also occur in infants with ZSD including septal defects and patent ductus arteriosus. Septal defects are “holes” in the heart, specifically holes in the thin partition (septum) that separates the chambers of the heart. Small septal defects may close on their own; larger defects may cause various symptoms including breathing irregularities and high blood pressure. Patent ductus arteriosus is a condition in which the two large arteries of the body (aorta and pulmonary artery) remain connected by a small blood vessel (ductus arteriosus) that is supposed to close after birth., CNS disturbances : Infants may also develop a variety of neurological complications including frequent seizures, poor or absent reflexes, intellectual disability, and delays in reaching developmental milestones such as sitting, crawling or walking (developmental delays). Affected infants have various brain abnormalities including defects caused by the abnormal migration of brain cells (neurons). Neurons are created in the center of the developing brain and must travel to other areas of the brain to function properly. In individuals with ZSD, the neurons fail to migrate properly resulting in a variety of brain abnormalities (neuronal migration defects). Some affected infants also develop progressive degeneration of the nerve fibers (white matter) of the brain (leukodystrophy)., failure to thrive : Infants fail to gain weight and grow as expected., liver damage : Some infants may have an abnormally large spleen (splenomegaly) and/or liver (hepatomegaly). The liver may also be scarred (fibrotic) and inflamed (cirrhosis), with progressive loss of function resulting in a variety of symptoms such as yellowing of the skin and whites of the eyes (jaundice). Additional findings include small cysts on the kidneys and gastrointestinal bleeding due to deficiency of a coagulation factor in the blood. Some children may develop episodes of exaggerated or uncontrolled bleeding (hemorrhaging) including bleeding within the skull (intracranial bleeding). Eventually, liver failure may occur., hypotonia : Affected infants experience profoundly weak muscle tone., Feeding Difficulty : Infants may be unable to suck and/or swallow leading to feeding difficulties., Facial abnormalities : Infants may have distinctive facial features including a flattened appearance to the face, a high forehead, abnormally large “soft spots” (fontanelles) on the skull, broad bridge of the nose, a small nose with upturned nostrils (anteverted nares), an abnormally small jaw (micrognathia), a highly arched roof of the mouth (palate), a small chin, extra (redundant) folds of skin on the neck, and minor malformation of the outer part of the ears. The bony ridges of the eye socket may be abnormally shallow and the back of the head may be abnormally flat (flat occiput)., skeletal abnormalities : Minor skeletal abnormalities may also be present in ZSD including clubfoot, fingers that are fixed or stuck in a bent position and cannot extend or straighten fully (camptodactyly), and chondrodysplasia punctata, a condition characterized by the formation of small, hardened spots of calcium (stippling) on the knee cap (patella) and long bones of the arms and legs., Growth failure : Affected infants often exhibit prenatal growth failure in spite of a normal period of gestation., Ocular symptoms : A variety of eye abnormalities may occur including eyes that are spaced widely apart (hypertelorism), clouding of the lenses of the eyes (cataracts) or the clear (transparent) outer layer of the eye (corneal opacities), degeneration of the nerve that carries visual images from the eye to the brain (optic atrophy), and rapid, involuntary eye movements (nystagmus). Many infants with ZSD develop degeneration of the retina, which is the thin layer of nerve cells that sense light and convert it into nerve signals, which are then relayed to the brain through the optic nerve. Glaucoma, a condition characterized by increased pressure within the eye causing a distinctive pattern of visual impairment, may also occur. The various eye abnormalities associated with ZSD can cause loss of vision to varying degrees. In addition to vision loss, infants with ZSD also experience hearing loss with onset during the first few months of life., Signs : nan, Treatment : There is no cure for Zellweger syndrome. Some therapies may ease symptoms, but there aren’t any treatments that address the cause of ZS. For example, a baby with difficulty eating may benefit from a feeding tube. But the baby won’t be able to eat normally on his or her own in the future., Pathophysiology : ZS is the result of mutations (changes) to certain genes. It’s an autosomal recessive disorder. This means a child can only inherit the disorder if both parents pass on a copy of the mutated gene.If both parents have the mutated gene, their children have a 50% chance of being carriers. A carrier inherits the mutated genes without developing the disease. The children have a 25% chance of developing the disease.Also called peroxisomal biogenesis disorders, these diseases affect peroxisomes. Peroxisomes are parts of cells that are essential for many body functions.The other Zellweger spectrum disorders include : Heimler syndrome, which causes hearing loss and tooth problems in late infancy or early childhood.Infantile Refsum disease, which causes muscle movement problems and delays in a baby’s development.Neonatal adrenoleukodystrophy, which causes hearing and vision loss, as well as problems with the infant’s brain, spine and muscles., Epidemiology : Along with the other diseases in the Zellweger spectrum, they affect about 1 in 50, 000 to 1 in 75, 000 newborns., variable, There’s no way to prevent ZS. People with a family history of ZS may consider genetic counseling. A genetic counselor can help you evaluate your risk of passing the disease to your children or grandchildren., Complications : blindness, Deafness, Diagnostics : USG ABDOMEN(W/A), MRI, Urine analysis, Differential diagnosis : Alport Syndrome, Down syndrome, Galactosemia, LEUKODYSTROPHY, Liver dysfunction, Lowe syndrome, Neonatal seizures, disease description : Zellweger syndrome (ZS) is a genetic disorder found in newborn babies. ZS is the most severe of the four disorders in the Zellweger spectrum. It causes serious problems with nerves and metabolism (changing food into energy) soon after birth. ZS affects the brain, liver and kidneys. It also harms important functions throughout the body. Another term for Zellweger syndrome is cerebrohepatorenal syndrome. The condition is usually fatal.

Zoon’s Vulvitis

Disease Name : Zoon’s Vulvitis, Symptoms : pruritus vulvae : itching of the vulva, Asymptomatic, Pelvic discomfort : pain in the lowest part of the stomach area and pelvis, Signs : erythematous patches on the labia minora or vestibule : Zoon vulvitis is a rare, chronic and benign inflammation of the vulvar mucosa. It affects women with ages between 26 and 70 years, rarely prepubertal girls.It is an idiopathic condition, possibly due to a reaction of the vaginal mucosa to trauma and/ or infections, Treatment : medication : Lidocaine/Lignocaine, First line, Emollients and a potent topical steroid are used as fi rst line,treatment. ,Second line, Lidocaine 5% is useful if there are symptoms for burning in the,absence of any infl ammatory disease., Third line, There are case reports of the use of misoprostol and intralesional interferon a . Topical tacrolimus has not been found to be useful, Pathophysiology : The essential features are epidermal thinning, absent horny and granular layers and distinctive lozenge-shaped keratinocytes with widened intercellular spaces. In the dermis there is a dense, inflammatory, infiltrate composed largely of plasma cells, with dilated blood vessels and usually a lot of haemosiderin. Russell bodies and dermal–epidermal splitting have also been describedZoon vulvitis is a rare, chronic and benign inflammation of the vulvar mucosa. It affects women with ages between 26 and 70 years, rarely prepubertal girls.It is an idiopathic condition, possibly due to a reaction of the vaginal mucosa to trauma and/ or infections. It is characterized by well-defined, non-infiltrated, orange-yellow-colored plaques with cayenne pepper spots. Erosive lesions, which was the case of our patient, and granulomatous varieties are reported less frequently., Epidemiology : The prevalence of vaginal plasma cell disorder is unknown and likely underreported as typical symptoms overlap with several more common vulvovaginal disorders ., fewer than 70 cases reported., variable, The same good habits used to treat vulvitis can prevent it from happening in the first place.,,Use mild, unscented soaps and warm water to clean your genitals, or just use warm water.,Avoid douching and using fragranced feminine products, like tampons, pads and pantyliners.,Change into clean, dry clothes soon after swimming or exercising.,Wear breathable, loose-fitting cotton underwear during the day., Complications : dysplasia, Diagnostics : biopsy, Differential diagnosis : Lichen Planus, Pemphigus Vulgaris, disease description : Zoon vulvitis is a rare, chronic and benign inflammation of the vulvar mucosa. It affects women with ages between 26 and 70 years, rarely prepubertal girls. It is an idiopathic condition, possibly due to a reaction of the vaginal mucosa to trauma and/ or infections.

Zoster

Disease Name : Zoster, Symptoms : pruritus : Shingles is a viral infection that causes a painful rash. Shingles can occur anywhere on your body. It typically looks like a single stripe of blisters that wraps around the left side or the right side of your torso., Pain : Pain, burning or tingling, headache : it causes headache, Malaise : Shingles is a viral infection that causes a painful rash. Shingles can occur anywhere on your body., fever : it causes fever, Signs : lymphadenopathy : swelling of lymph nodes., Closely grouped red papules, rapidly becoming vesicular and then pustular, develop in a continuous or interrupted band in the area of one, occasionally two and, rarely, more contiguous dermatomes : the shingles rash develops as a stripe of blisters that wraps around either the left or right side of the torso. Sometimes the shingles rash occurs around one eye or on one side of the neck or face., Treatment : medication : Pregabalin , Amitriptyline , Valaciclovir , Famciclovir , Aciclovir , First line,•\tAciclovir,•\tValaciclovir,•\t Famciclovir,Second line,•\tAciclovir, iv,Third line,For post-herpetic neuralgia : ,•\tAmitriptyline ,•\t Nortriptyline,•\t Sodium valproate,•\tGabapentin,•\tPregabalin, Pathophysiology : When you have chickenpox as a child, your body fights off the varicella-zoster virus and the physical signs of chickenpox fade away, but the virus always remains in your body. In adulthood, sometimes the virus becomes active again. This time, the varicella-zoster virus makes its second appearance in the form of shingles., Epidemiology : 10 cases per 1000 patient-years., average annual incidence has been estimated at 2–4, variable, Two vaccines are available in the United States to reduce your chance of developing shingles and postherpetic neuralgia. ,,Shingrix has been shown to be more than 90% effective in preventing shingles and postherpetic neuralgia. Its effectiveness remains above 85% for at least four years after receiving the vaccine., Complications : erythema multiforme, Bacterial infection, Ophthalmologic disorders, FACIAL PARALYSIS, Guillain-Barre Syndrome, Acute Retinal Necrosis, Post-herpetic neuralgia, Diagnostics : PCR, Tzanck smear, Direct fluorescent antibody testing, Differential diagnosis : Acneiform eruptions, allergic contact dermatitis, Aphthous stomatitis, CELLULITIS, chickenpox, Ecthyma, Erysipelas, folliculitis, insect bites, stomatitis, disease description : Zoster is a segmental eruption due to reactivation of latent VZV from dorsal root ganglia. Zoster (zoster = a girdle, a reference to its segmental distribution) is a sporadic affliction of individuals who have previously had clinical or subclinical varicella. Zoster patients are infectious, both from virus in the lesions and, in some instances, the nasopharynx. In susceptible contacts of zoster, chickenpox can occur.

Disease Name : Zygomycosis, Symptoms : CNS disturbances : Central nervous system (CNS) disease manifests as headache, decreasing level of consciousness, and focal neurologic symptoms/signs including cranial nerve deficits. Patients with CNS involvement may have a history of open head trauma, intravenous drug use, or malignancy., Gastrointestinal symptoms : Gastrointestinal (GI) mucormycosis usually affects severely malnourished individuals. The presentation is nonspecific, with abdominal pain, distention, nausea, and vomiting. Hematochezia or obstruction may occur. Some patients have tenderness to palpation or a mass. Rupture may lead to signs of peritonitis., nasal symptoms : Rhinocerebral disease may manifest as unilateral, retro-orbital headache, facial pain, numbness, fever, hyposmia, and nasal congestion, which progresses to black discharge. Initially, mucormycosis may mimic bacterial sinusitis., brain problem : A reduced level of consciousness state denotes brain involvement., diabetes mellitus : Most patients with rhinocerebral disease have diabetes (especially with ketoacidosis) or have malignancies with associated neutropenia., cutaneous symptoms : Cutaneous disease manifests as cellulitis, which progresses to dermal necrosis and black eschar formation. The progressive black necrotic lesion of cutaneous mucormycosis reflects the vascular invasion characteristic of all forms of the disease. Patients with skin disease may have had previous trauma or been exposed to contaminated medical equipment, such as bandages. 4, 5 Rare cases have occurred at catheter sites or insulin or illicit drug injection sites., Ocular symptoms : Late symptoms that indicate invasion of the orbital nerves and vessels include diplopia and visual loss., Ocular symptoms : Late symptoms that indicate invasion of the orbital nerves and vessels include diplopia and visual loss. Proptosis, ptosis, chemosis, and ophthalmoplegias indicate retro-orbital extension. Cranial nerves V and VII are the most commonly affected. Loss of vision can occur with retinal artery thrombosis., pulmonary disease : Pulmonary mucormycosis manifests nonspecifically as fever, dyspnea, and cough. Hemoptysis may occur in the presence of necrosis. Most patients with pulmonary disease have hematologic malignancies and a history of neutropenia. Pulmonary disease frequently occurs with concurrent sinus involvement. The signs of pulmonary disease are nonspecific. Fevers are often noted. The lung examination may reveal decreased breath sounds and rales. Occasionally, chest wall cellulitis can occur adjacent to the underlying parenchymal disease, given the ability of this infection to cross tissue planes., Signs : nan, Treatment : If you respond well to IV therapy and tissue removal, your doctor will likely remove your IV and give you oral medications to take.,,Common antifungal medications that your doctor may prescribe for mucormycosis include : ,,amphotericin B (given through an IV),posaconazole (given through an IV or orally),isavuconazole (given through an IV or orally), The first steps in treating mucormycosis are receiving intravenous (IV) antifungal medications and having surgical debridement. Surgical debridement involves cutting away all infected tissue. Removing infected tissue has been shown to preventTrusted Source the infection from spreading further., Pathophysiology : Exposure and Entry : Zygomycetes are commonly found in soil, decaying organic matter, and various environmental sources. Individuals can become exposed to the fungal spores through inhalation, ingestion, or direct contact with contaminated surfaces or materials.Host Factors : Zygomycosis primarily affects individuals with compromised immune systems, such as those with uncontrolled diabetes, hematologic malignancies, solid organ or stem cell transplants, neutropenia (low white blood cell count), and other immunosuppressive conditions. Diabetic ketoacidosis creates a particularly favorable environment for the fungi to grow due to the elevated glucose levels.Adhesion and Invasion : Once inside the body, the fungal spores can germinate and invade tissues. Zygomycetes have a propensity to invade blood vessels, causing angioinvasion, which leads to tissue damage and thrombosis within the blood vessels. This can result in tissue necrosis and impaired blood supply to the affected area., Epidemiology : 0.005 to 1.7 per million population., variable, Mucormycosis isn’t contagious, so you can’t get it from an infected person. Self-care measures are the best way to prevent this type of infection. If you have a weakened immune system, it’s important to keep yourself safe outdoors. Wearing a mask while doing yardwork and bandaging all wounds until they heal will help prevent fungal infections.,,You may also consider taking extra precautions during the summer and autumn months, when there’s an increased amount of the fungi in the environment., Complications : CAVERNOUS SINUS THROMBOSIS, death, osteomyelitis, disseminated infection, Diagnostics : Protein, CT SCAN, blood test, Differential diagnosis : Anthrax, Aspergillosis, CELLULITIS, Pulmonary Embolism, Sinusitis, TUBERCULOSIS, disease description : Mucormycosis is an opportunistic fungal infection of the zygomycete family that can cause various types of infections.  In most cases, there exist underlying conditions that predispose the hosts to the infection. As the fungi responsible are typical environmental organisms, they are usually non-pathologic in immunocompetent individuals. In immunosuppressed patients, however, these otherwise innocuous organisms can become a devastating and difficult-to-treat opportunistic infection. There are several clinical forms of infection : pulmonary, gastrointestinal, cutaneous, encephalic, and rhinocerebral. The latter must be differentiated from allergic fungal sinusitis, which is a non-invasive, local overgrowth in immunocompetent patients. Mucormycosis is characterized by tissue necrosis due to an invasion of blood vessels and subsequent thrombosis, which usually follows a rapid progression. The key to treatment is early and aggressive surgical debridement, along with high doses of intravenous antifungal therapy