What is Ichthyosis? | Foundation for Ichthyosis & Related Skin Types (FIRST) What is ichthyosis? Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. The prefix "ichthy" is taken from the Greek root for the word fish. Each year, more than 16,000 babies are born with some form of ichthyosis. A recent study has determined that approximately 300 babies are born each year with a moderate to severe form of ichthyosis. Ichthyosis affects people of all ages, races and gender. The disease usually presents at birth, or within the first year, and continues to affect the patient throughout their lifetime. Is there a cure for ichthyosis? At present time there is no cure for ichthyosis, however dedicated researchers and physicians have and continue to develop effective ways to help manage the disorder. Parents are also playing an important role in sharing different treatments they are receiving with fellow parents of affected children and affected adults. What are some of the problems associated with ichthyosis?

Besides the common scaling condition of the skin and depending on the severity, there may be associated psychological symptoms due to the abnormal appearance of the skin. Ichthyosis is disfiguring for most affected individuals. In addition to the numerous medical complications like dehydration, infections, chronic blistering, overheating, and rapid-calorie loss, patients with ichthyosis are subjected to psychological issues. Patients are often ostracized and concerns of isolation, low self-esteem, and depression are common due to the appearance of their visible, chronically shedding skin. Why is skin important to us? The skin is the primary deflector for the human body. It encases and protects our body from the external environment. The barrier that makes up the skin has many components, which include a barrier to excessive loss of body fluids or uptake of noxious chemicals in the skin. The skin is made up of many layers, but it is the outermost layer that provides the most protection and it is this layer where most ichthyosis patients have a defect. What causes ichthyosis? Most forms of ichthyosis are very rare. The genetic mutation that causes the disorder is passed from parent to child.

In some cases however, neither parent exhibits the disorder themselves, but they are carriers of the defective gene. When two carriers pass their mutated gene on to a new life, the child will inherit the disorder. In some very rare cases, the genetic mutation occurs spontaneously in the affected generation. What resources are available to help me? FIRST offers a vast library of information available to guide you on your journey to understanding ichthyosis and its implications. Ranging from a basic overview to an in-depth look at how ichthyosis is passed genetically , information for caregivers and teachers , our library includes booklets, resource sheets , disease sheets and our quarterly newsletter, Ichthyosis Focus . Our Regional Support Network is available to connect individuals with others in similar circumstances. harlequin ichthyosis - Genetics Home Reference harlequin ichthyosis Description Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs.

Restricted movement of the chest can lead to breathing difficulties and respiratory failure. The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence. Related Information Genetic Changes Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis ). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly.

A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis. Ichthyosis vulgaris: MedlinePlus Medical Encyclopedia Possible skin thickening Mild itching of the skin The dry, scaly skin is usually most severe on the legs. But it can also involve the arms, hands, and middle of the body. People with this condition may also have many fine lines on the palm of the hand. Exams and Tests Your health care provider can usually diagnose this condition by looking at your skin. Tests may be needed to rule out other possible causes of dry, scaly skin. Your provider will ask if you have a family history of similar skin dryness. A skin biopsy may be performed. Treatment Your provider will recommend using heavy-duty moisturizers. Creams and ointments work better than lotions. Apply these to moist skin immediately after bathing. You should use mild, non-drying soaps. Your provider may tell you to use hydrating-moisturizing creams that contain keratolytic chemicals such as lactic acid, salicylic acid, and urea. These chemicals help skin shed normally while retaining moisture.

Outlook (Prognosis) Ichthyosis vulgaris can be bothersome, but it rarely affects your overall health. The condition usually disappears during adulthood, but may return years later. Possible Complications A bacterial skin infection may develop if scratching causes openings in the skin. When to Contact a Medical Professional Call for an appointment with your health care provider if: Symptoms continue despite treatment Common ichthyosis; Fish scale disease Images Skin layers References Newsham J, Farquharson NR, Clayton TH. Ichthyoses. In: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson I, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 107. Patterson JW. Disorders of epidermal maturation and kertinization. In: Patterson JW, ed. Weedon's Skin Pathology. 4th ed. Philadelphia, PA: Elsevier; 2015:chap 9.

Read More Atopic dermatitis Review Date 4/14/2015 Updated by: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Ichthyosis - American Osteopathic College of Dermatology (AOCD) Ichthyosis Share | The term ichthyosis is derived from the Greek word ichthys, which means fish. Ichthyosis is not one disease but a group of disorders in which there is excess accumulation of epidermal cells resulting in the appearance of scales. Severity ranges from mild, asymptomatic to life threatening. There are a large number of types of ichthyosis; most are extremely rare. This condition tends to be worse in the dry, cold winter months and generally improve in the warmer, more humid months of summer. The most common type of ichthyosis is ichthyosis vulgaris which accounts for almost 95% of cases. Apart from ichthyosis vulgaris all other forms of ichthyosis are very rare.

Ichthyosis vulgaris affects about 1:250 individuals. Ichthyosis occurs worldwide and affects people of all races. In addition to this there are many more types but only 3 others will be addressed here. They are lamellar, x-linked, and epidermolytic hyperkeratosis forms of ichthyosis. These conditions are inherited and are based on expression of specific keratin genes which result in the formation of abnormal keratins. Although the signs and symptoms may vary among the different types of ichthyosis, they all show the characteristic dry, rough, scaly skin. Key characteristics of the four main types of inherited ichthyosis are listed in the table below. Type of vulgaris At birth skin may appear normal Skin gradually becomes dry, rough and scaly, with most signs and symptoms appearing by the age of 5 Can affect all parts of the body, including the face and scalp. Bends of arms and legs usually spared.

Palms are excessively lined Lamellar ichthyosis Often called collodion baby as at birth the baby is covered by a thickened collodion-like membrane which is then shed Scaling occurs over the whole body, including creases and bends May result in drooping lower eyelids (ectropion) Prenatal testing in subsequent pregnancies is available May be associated with mutation in transglutaminase 1 gene Epidermolytic hyperkeratosis Skin is moist, red, and tender at birth Fluid filled blisters may occur which may become infected and give rise to a foul skin odor Thick, generalized scaling occurs within a few days Biopsy shows epidermolytic hyperkeratosis Generalized scaling is present at or shortly after birth Scaling is most prominent over the extremities, neck, trunk, and buttocks May cause corneal opacities Associated with steroid sulphatase deficiency in fibroblasts and elevated plasma cholesterol sulphate Only affects males May be associated with testicular disease There is no cure for ichthyosis. The main goal of treatment is to moisturize and exfoliate. This helps prevent dryness, scaling, cracking and build-up of skin.

People with ichthyosis need to bathe, moisturize and exfoliate their skin on a daily regular basis. Your dermatologist may prescribe or recommend moisturizing creams and ointments to keep the condition under control. In severe cases they may prescribe oral retinoids such as acitretin or isotretinoin . This can help to reduce scaling. Oral antibiotics may be prescribed if secondary infection occurs. People with ichthyosis have normal lifespan. However they may need to spend several hours each day caring for their skin so they can lead as much of a normal life as possible.

At some point during their life people with severe ichthyosis may encounter some of the following problems: Overheating: ichthyosis may affect normal temperature control by reducing the ability to sweat Limited movement: dry, scaly skin may make it painful to move some parts of the body Secondary infection: cracking and splitting of the skin may lead to skin infections and sometimes systemic infections The following skin care tips may help: Apply lotions and creams to wet skin to trap in the moisture (within 3 minutes of showering/bathing) Rub gently a pumice stone on wet skin to help remove thickened crusty skin Brush washed hair to remove scales from scalp Lanolin creams and products containing urea, lactic acid and other alpha hydroxy acids may help to exfoliate and moisturize skin Ichthyosis Ichthyosis PDF version of this document [PDF - 153 KB] December 2012 Ichthyosis is a family of disorders characterized by dry or scaly and thickened skin. “Ichthy” comes from the Greek word for fish. This condition is called “ichthyosis” because the thickened skin sometimes has the appearance of fish scales. Ichthyosis may be either inherited or acquired.

Inherited ichthyosis is usually apparent during the first year of life, often at birth, and continues to affect a person throughout life. Acquired ichthyosis may occur as the result of medical problems including hormonal, inflammatory, or malignant disorders. This fact sheet focuses on inherited ichthyosis. Resources What Are the Different Types of Ichthyosis? There are many different types of inherited ichthyosis. Most types involve only the skin, and some regions of the skin may be more severely affected than others. Other types involve internal organs as well as the skin, and are referred to as syndromic types of ichthyosis. Although there is an increase in the tendency to categorize inherited ichthyosis by the gene that causes it, the clinical appearance usually falls into one of five categories (see box below). Different Types of Ichthyosis Ichthyosis vulgaris. Characterized by mild skin scaling and dryness. Ichthyosis vulgaris and another form, recessive X-linked ichthyosis, are relatively common and appear similar. Epidermolytic ichthyosis (previously called epidermolytic hyperkeratisis). Characterized by thick, often spiny dark scales and skin that may blister easily following trauma.

Lamellar ichthyosis. Characterized by large, platelike scales and thickening of the skin. Congenital ichthyosiform erythroderma. Characterized by red skin and fine scales. Localized ichthyosis. Characterized by thick or scaly skin that is localized to particular regions such as the palms of the hands and soles of the feet. What Is the Cause? The inherited forms of ichthyosis are caused by mutations in genes passed from one or both parents to a child. In some cases, the parents themselves do not have the condition, but carry the genetic mutations. In other cases, mutations occur spontaneously during the formation of the egg or sperm or at the time of, or shortly after, conception. Mutations in more than 40 genes are now known to cause inherited ichthyosis. In general, mutations in more than one gene cause each clinical type of ichthyosis. What Are the Signs and Symptoms? Specific signs and symptoms depend on the particular form. The most common signs include dry scaly skin, redness, blistering, or excessive skin shedding. Symptoms include itching, overheating, and pain. How Is Ichthyosis Diagnosed?

The diagnosis is based on the results of a medical history and physical exam. In some cases, doctors use blood tests or skin biopsies to diagnose the condition or identify the particular form. How Is Ichthyosis Treated? Because there is no cure for ichthyosis, treatment is targeted at managing the signs and symptoms. Treatment may include creams, lotions, or ointments to relieve dryness. Lengthy bathing in salt water or preparations containing salicylic acid (aspirin) or urea may also ease scaling. For more severe cases, doctors may prescribe vitamin A derivatives called retinoids. What Types of Doctors Diagnose and Treat Ichthyosis? Ichthyosis is treated by dermatologists, who are doctors specializing in diagnosing and treating diseases involving the skin, hair, and nails. What Research Is Being Done? Ichthyosis research is focused on understanding better the causes of the disorder, as well as finding more effective treatments. Although the genes responsible for the majority of ichthyosis cases have been identified, there are still some people with the disease who donï¿½t have a mutation in one of the known genes. For that reason, researchers continue to search for genes involved in the disease.

They also are looking for ways to manipulate the responsible genes to stop the disease. Other scientists are working to develop pharmaceutical treatments, including new emollients or preparations that soften the outer layer of skin and cause it to hold in more moisture. New formulations of topical keratolytics also are being developed. Keratolytics soften the keratin, which is the key structural material of the outer layer of the skin. In 1994, the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) funded the establishment of a National Registry for Ichthyosis and Related Disorders at the University of Washington. The goal of the registry is to identify people with ichthyosis and other related disorders, and to collect information about their skin disorder and how it has affected them. The registry established a large database with historical, clinical, and quality-of-life information for 600 people with ichthyosis and related disorders. Most of them are interested in participating in related research. Although the registry is now closed to new enrollment, it is maintained to provide information to scientists studying ichthyosis, and has already served as a source of crucial information for numerous studies. Resources Foundation for Ichthyosis and Related Skin Types, Inc.

Website: National Registry for Ichthyosis and Related Disorders Website: Acknowledgment The NIAMS gratefully acknowledges the assistance of Leonard Milstone, M.D., in the development and review of this publication. The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the U.S. Department of Health and Human Services’ National Institutes of Health (NIH), is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. The NIAMS information clearinghouse is a public service sponsored by the NIAMS that provides health information and information sources. Additional information can be found on the NIAMS website at The National Institutes of Health (NIH)—The Nation’s Medical Research Agency—includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary Federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit .

For Your Information This publication contains information about medications used to treat the health condition discussed here. When this publication was developed, we included the most up-to-date (accurate) information available. Occasionally, new information on medication is released. For updates and for any questions about any medications you are taking, please contact U.S. Food and Drug Administration Toll free: 888-INFO-FDA (888-463-6332) Website: For additional information on specific medications, visit Drugs@FDA at . Drugs@FDA is a searchable catalog of FDA-approved drug products. For updates and questions about statistics, please contact Centers for Disease Control and Prevention, National Center for Health Statistics Website: This publication is not copyrighted. Readers are encouraged to duplicate and distribute as many copies as needed. Additional copies of this publication are available from: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Ichthyosis | DermNet New Zealand DermNet New Zealand Author: Vanessa Ngan, Staff Writer, 2003. Updated by Chief Editor, A/Prof Amanda Oakley, January 2015. What is ichthyosis?

Ichthyosis is a disorder of cornification, characterised by persistently dry, thickened, “fish scale” skin. There are at least 20 varieties of ichthyosis, including inherited and acquired forms. Who gets ichthyosis? Inherited forms of ichthyosis Inherited forms of ichthyosis may be congenital or have delayed onset. Ichthyosis vulgaris (1:250—1000) has autosomal dominant inheritance, meaning an abnormal gene is inherited from a parent. Penetrance is 90%. Onset is delayed until at least 3 months of age. Recessive X-linked ichthyosis (1:2000—6000) mainly affects males, who have a single X chromosome with the abnormal gene. Females are protected by usually having a normal second X chromosome. Onset may be congenital or delayed by up to 6 months. In autosomal recessive congenital ichthyosis (1:3–500,000) one abnormal gene is inherited from each parent.

Keratinopathic ichthyoses (1:200,000) have recessive and dominant forms and present at birth with a collodion membrane. Ichthyosis can also be due to new spontaneous mutation. Acquired ichthyosis Reduced or absent granular cell layer and filaggrin in ichthyosis vulgaris Lamellar body ‘ghosts’ in lamellar ichthyosis Vacuolar degeneration of suprabasal keratinocytes and coarse keratohyalin granules in thickened granular layer in keratinopathic ichthyosis What problems does ichthyosis cause? People who have very severe ichthyosis may need to spend several hours each day caring for their skin so they can lead as much of a normal life as possible.

At some point during their life people with severe ichthyosis may come against some of the following problems: Overheating: ichthyosis may affect normal temperature control by reducing the ability to sweat Limited movement: dry, scaly skin may make it too painful to move some parts of the body Secondary infection: cracking and splitting of the skin may lead to bacterial skin infections and sometimes systemic infections Impaired hearing or eyesight: skin may build up over the ears or eyes What is the treatment for ichthyosis? There is no cure for the inherited forms of ichthyosis. The following may be useful: Non-soap cleansers (soap may exacerbate dryness) Bathing in salt water Rubbing with a pumice stone or exfoliating sponge to remove scale Ichthyosis Vulgaris: Causes, Symptoms, and Diagnosis Ichthyosis Vulgaris Email addresses will not be shared with 3rd parties. See privacy policy Thank you. Your message has been sent. OK We're sorry, an error occurred. We are unable to collect your feedback at this time. However, your feedback is important to us. Please try again later. Close Read This Next What is ichthyosis vulgaris?

Ichthyosis vulgaris is an inherited skin condition that occurs when your skin doesn’t shed its dead skin cells. This causes dry, dead skin cells to accumulate in patches on the surface of your skin. It’s also known as “fish scale disease” because the dead skin accumulates in a similar pattern to a fish’s scales. The majority of cases are mild and confined to specific areas of the body. However, some cases are severe and cover large areas of the body, including the abdomen, back, arms, and legs. Pictures of Ichthyosis Vulgaris Symptoms of ichthyosis vulgaris include: flaky scalp polygon-shaped scales on the skin scales that are brown, gray, or white severely dry skin thickened skin Symptoms of ichthyosis vulgaris are typically worse in winter, when the air is colder and dryer. The patches of dry skin typically appear on the elbows and lower legs, most often affecting the shins in thick, dark segments. In severe cases, ichthyosis vulgaris may also cause deep, painful cracks to develop on the soles of your feet or palms of your hands. What causes ichthyosis vulgaris?

Ichthyosis vulgaris may be present at birth or appear in the first few years of a child’s life, but it typically disappears during early childhood. Some people may never have symptoms again, but for others, it can return during adulthood. As with many other skin conditions, genetics play a role in the transmission of ichthyosis vulgaris. The condition follows an autosomal dominant pattern. This means that only one parent needs to possess the mutated gene in order to pass it onto his or her child. It is one of the most common of all inherited skin disorders. In rare cases, adults can develop ichthyosis vulgaris even if they don’t carry the defective gene. Though this is rare, it’s most often associated with other conditions, including cancer, kidney failure, or thyroid disease. Ichthyosis vulgaris may also occur along with other skin disorders, such as atopic dermatitis (eczema) or keratosis pilaris. Atopic dermatitis, more commonly known as eczema, is known for causing extremely itchy skin rashes. The affected skin may also be thick and covered in scales.

The white or red skin bumps caused by keratosis pilaris can look similar to acne, but they usually appear on the arms, thighs, or buttocks. This condition can also cause rough patches of skin. How is ichthyosis vulgaris diagnosed? A doctor specializing in skin disorders, called a dermatologist, can typically diagnose ichthyosis vulgaris by sight. Your doctor will ask you about any family history of skin diseases, the age you first experienced symptoms, and whether you have any other skin disorders. Your doctor will also record where the patches of dry skin appear. This will help your doctor track the effectiveness of your treatment. Your doctor may also perform other tests, such as a blood test or skin biopsy. This will rule out other skin conditions, such as psoriasis , that cause similar symptoms. A skin biopsy involves removing a small section of the affected skin for examination under a microscope. Treating ichthyosis vulgaris There is currently no cure for ichthyosis vulgaris. However, treatment can help you manage your symptoms. Home treatments Exfoliating your skin with a loofa or a pumice stone after you bathe can help you remove the excess skin.

You should also regularly apply moisturizers that have urea or propylene glycol in them. These chemicals will help your skin stay moist. Using products with urea, lactic, or salicylic acid can also help your skin shed dead cells. Using a humidifier in your home will add moisture into the air and keep your skin from drying out. Prescription treatments Your doctor may also prescribe specialized creams or ointments to help moisturize the skin, get rid of dead skin, and control inflammation and itching. These may include topical treatments containing the following ingredients: Lactic acid or other alpha hydroxy acids: These compounds, also used in antiaging cosmetics, help the skin retain moisture and reduce scaling. Retinoids: Retinoids may be used in difficult cases to slow your body’s production of skin cells. These substances are derived from vitamin A, so they may have some adverse side effects. These may include lip swelling, hair loss, or birth defects if taken during pregnancy. Living with ichthyosis vulgaris Living with ichthyosis vulgaris and similar skin conditions is difficult at times, especially for children. If the cosmetic impact of the condition becomes too much, you may want to attend a support group or see a mental health professional.

These therapies can help you to regain your confidence and deal with any emotional difficulties you may encounter. The key to living with this condition is learning to make management of this disease part of your daily routine. Ichthyosis Guide: Causes, Symptoms and Treatment Options Q & A What Is It? Ichthyosis is the term for severe, persistent problems with dry skin that almost always start in childhood or infancy. Ichthyosis can be genetic (inherited) or can develop later in life. In a large majority of people with the disease, the cause is related to one or more genetic mutations. Under normal circumstances, the body continuously renews its skin surface, building new skin cells and allowing older cells to be shed from the surface. Ichthyosis disrupts this balance either because too many replacement skin cells are produced or because the skin cells do not separate well from the skin surface when it is their time to drop off. The result is that skin cells accumulate into thick flakes that adhere to the body and can resemble fish scales. Ichthyosis often causes severe cosmetic concerns for the person with the condition. However, it is not a contagious disease. The condition also can interfere with the skin's critical roles in protecting against infection, preventing dehydration, and regulating body temperature.

Most people with ichthyosis have ichthyosis vulgaris, the mildest form of the disease. It occurs in one out of every 250 people. Symptoms Depending on the type of gene abnormality that causes ichthyosis, the skin can show different patterns of flaking. In most cases of ichthyosis vulgaris, for example, skin will flake over the majority of the body, but not on the inside surfaces of joints, in the groin area or on the face. Symptoms of all genetic types of ichthyosis are either noticeable at birth or appear during childhood. Symptoms may include: Severe dryness of the skin with thickening and flaking, which may be appear only in limited areas or may involve almost the entire skin surface Mild itching of the skin Body odor, because the spaces under and between skin flakes can harbor collections of bacteria or fungus Wax buildup in the ears, causing hearing difficulties Symptoms are usually worse in winter months and in dry climates, because warmth and humidity improve these symptoms. Many people who have ichthyosis vulgaris also have allergic problems, such as allergic nasal congestion, asthma or eczema. Diagnosis A doctor usually can diagnose ichthyosis by looking at the skin.

A family history is also very useful. In some cases, a skin biopsy will be done to help to confirm the diagnosis. In a biopsy, a small piece of skin is removed and examined under a microscope. In rare instances, genetic testing may be helpful in making a diagnosis. Expected Duration Most cases of ichthyosis have a genetic basis and will last a lifetime. Sometimes, adult onset ichthyosis occurs in association with a disease, and if the disease can be treated, the ichthyosis may go away. In most people, symptoms can be controlled. Prevention There is no way to prevent ichthyosis. As with other genetic diseases, there is a risk that children of an affected parent will inherit the gene. Treatment Treatment of all types of ichthyosis involves restoring the skin's moisture and facilitating more aggressive shedding of dead skin cells. Regular visits to a dermatologist can help when ichthyosis causes severe symptoms. To get the best results, use moisture-retaining creams or ointments after a bath or shower, so that moisture is maintained within the skin surface. Petrolatum, lanolin or urea -containing preparations are very helpful in maintaining skin moisture. Also helpful are medicines that promote shedding of skin flakes.

These include lotions or creams that contain lactic acid or other "alpha-hydroxy acids." If the ichthyosis leads to scratching that causes skin infections, or if body odor is a major problem, antibiotics may be needed from time to time. When To Call A Professional Because ichthyosis can make the skin a less effective barrier to infection, it is important to contact a physician if you develop a fever or redness of the skin. Prognosis With continued effective treatment and good advice about skin care, ichthyosis is usually very manageable. Some forms of ichthyosis improve after childhood. Rare forms of ichthyosis can be life threatening, even in infancy, if skin problems are severe. Learn more about Ichthyosis Ichthyosis - NHS Choices Ichthyosis Ichthyosis is a condition that causes widespread and persistent thick, dry, "fish-scale" skin. There are at least 20 different types of ichthyosis. Some types are inherited at birth and other types are acquired during adulthood. There's no cure for ichthyosis, but a daily skincare routine usually keeps the symptoms mild and manageable.

This topic covers: Helping with research What causes ichthyosis Most people with ichthyosis have inherited a particular faulty gene from their parent. The signs and symptoms of inherited ichthyosis appear at birth or within the first year of life. The faulty gene affects the rate at which the skin regenerates – either the shedding of old skin cells is too slow, or the skin cells reproduce at a much faster rate than they can shed old skin. Either way, this causes a build-up of rough, scaly skin. Ichthyosis vulgaris Ichthyosis vulgaris is the most common type of inherited ichthyosis, affecting 1 in 250-1,000 people.

Signs and symptoms include: skin may appear normal at birth skin gradually becomes dry, rough and scaly, usually before the age of one the face and the bends of the elbows and knees aren't usually affected limbs may develop fine light-grey scales the skin on the palms of the hands and soles of the feet may have more lines than normal and be thickened the child often also has eczema symptoms are often worse when it's cold and dry and improve in warm, humid conditions – this means they may be more noticeable in the winter than the summer Other types of inherited ichthyosis Other inherited forms of ichthyosis are very rare and include: X-linked ichthyosis – only affects males and includes general scaling, particularly over the limbs and trunk (torso) congenital ichthyosiform erythroderma harlequin ichthyosis – this is extremely rare, but the scaling is severe and requires intensive care at birth syndromes that include ichthyosis – such as Netherton's syndrome or Sjögren-Larsson syndrome Congenital ichthyosiform erythroderma Ichthyosis may develop if a baby is born with a shiny yellow membrane (collodion membrane) that sheds within the first week of life.

Once the membrane has shed, one of the following types of ichthyosis can develop: non-bullous ichthyosiform erythroderma – inflamed scaly skin that affects the entire skin surface bullous ichthyosiform erythroderma – inflamed scaly skin with fluid-filled blisters that may become infected and produce a foul-smelling skin odour lamellar ichthyosis – where the skin isn't as red, but the scales are larger and tighter to the skin In severe cases of congenital ichthyosiform erythroderma a child may also have drooping lower eyelids (ectropion) , mild hair loss and tight skin on the fingers. Acquired ichthyosis Acquired ichthyosis tends to develop in adulthood and isn't inherited. It's usually associated with another condition, such as: Certain medications can also trigger ichthyosis, including some medications used in targeted cancer therapy, such as vemurafenib and protein kinase inhibitors. Treating ichthyosis There's no cure for ichthyosis, but moisturising and exfoliating the skin daily can help prevent dryness, scaling and the build-up of skin cells.

Skincare Your skin specialist (dermatologist) will be able to prescribe or recommend suitable moisturising treatments (emollients) , which may be in the form of a cream, ointment, lotion or bath oil. You should: apply emollients to wet skin to trap the moisture – ideally a few minutes after having a bath or shower gently rub wet skin with a pumice stone to remove some of the thickened skin brush washed hair to remove scales from your scalp Other useful exfoliating or moisturising products include lanolin creams, products containing urea, propylene glycol, lactic acid, and other alpha hydroxy acids. Your dermatologist may also recommend peeling creams, such as salicylic acid, to help exfoliate and moisturise your skin. However, some people may find these products irritate their skin. Antibiotics or antiseptics may be prescribed to treat skin infections. Steroid treatments aren't effective for treating ichthyosis. Severe ichthyosis People with severe ichthyosis may need to spend several hours a day caring for their skin.

They may have the following problems: overheating – as a result of a reduced ability to sweat limited movement – dry skin can make it too painful to move certain parts of the body skin infection – after cracking and splitting of the skin impaired hearing or eyesight – if skin builds up over the ears or eyes People with severe ichthyosis may be prescribed retinoid tablets (synthetic vitamin A), which reduce the growth of overactive scaly skin. They improve the skin's appearance, but don't improve the inflammation or redness. Vitamin D supplements may also be prescribed. Outlook People with mild ichthyosis have a normal lifespan. However, the most severe inherited types can be life threatening. If you have inherited ichthyosis, you'll have it for life. Acquired ichthyosis may get better if the underlying cause is identified and treated. National Congenital Anomaly and Rare Diseases Registration Service If you or your child has ichthyosis, your clinical team may ask you for permission to pass information on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). The NCARDRS helps scientists identify more effective ways of treating and preventing rare conditions, such as ichthyosis.

You can opt out of the register at any time. CHILD syndrome - Genetics Home Reference CHILD syndrome Description Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side. People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life. CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities.

Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys. Related Information Genetic Changes Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells ( myelin ). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the body's tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.

Inheritance Pattern This condition has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome , one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Most cases of CHILD syndrome occur sporadically, which means only one member of a family is affected. Rarely, the condition can run in families and is passed from mother to daughter. Researchers believe that CHILD syndrome occurs almost exclusively in females because affected males die before birth. Only one male with CHILD syndrome has been reported. Related Information

Question: The medical condition Ichthyosis affects which part of the body?
Answer: Skin