bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel Nonsense Mutation at E106 of the 2B Rod Domain of Keratin 14 Causes Dominant Epidermolysis Bullosa Simplex
Authors: Gu Li‐Hong , Ichiki Yoshiro , Sato Miki , Kitajima Yasuo 
Published: July 2014

AbstractEpidermolysis bullosa simplex (EBS) is classified into three main types and is caused, in most cases, by missense mutations in the genes encoding keratin (K) 5 and K14. In this study, we clinically, ultrastructurally, immunohistochemically, and molecularly studied a patient with a dominant EBS, Köbner type. Using sequence analysis of genomic DNA, a novel K14 nonsense mutation was identified. A heterozygous mutation G1231T of KRT14 was found to be associated with the disease in the patient. The mutation created a premature stop codon (amino acid codon 411, residue 106 of the 2B helix) in the K14 molecule. This residue lies in a highly conserved region and was recently found to be absolutely required for molecular stability and intermediate filament assembly in K5 and K14. The E411X (E106X) heterozygous ablation, missing the last 16 amino acid residues of the 2B and the entire tail domain of K14, led to disease but did not result in clumping of keratin filaments. It is the first premature stop codon mutation of K14 found in dominant EBS.
Facial Steatocystoma Multiplex Associated with Pilar Cyst and Bilateral Preauricular Sinus
Authors: Sardana Kabir , Sharma Ravi C. , Jain Anubhav , Mahajan Supriya 
Published: July 2014

AbstractA 30‐year‐old male presented with multiple, yellowish to skin‐colored, firm to soft nodules on the forehead, temple, postauricular area and neck for the previous seven years. Examination of the scalp revealed a single, soft, cystic swelling on the occiput and the patient complained of occasional discharge from two, 0.1 × 0.1 cm, openings in front of both ears. Histopathology of the facial lesion was suggestive of steatocystoma multiplex, while that of the scalp revealed a pilar cyst. An otorhinolaryngeal evaluation confirmed the presence of bilateral pre‐auricular sinus. We present this previously unreported pilosebaceous hamartoma, constituting facial steatocystomas and pilar cyst, associated with bilateral preauricular sinus.
An Unusual Nail Presentation in Marfan's Syndrome
Authors: Nallegowda Mallikarjuna , Yadav Shiva Lal , Singh Upinderpal , Singh Manoj Kumar , Tejaswi Trilokraj 
Published: July 2014

AbstractSkin and nail lesions are very rare in Marfan's syndrome. We reported a 14‐year‐old boy who presented with pterygium in the nails of both the upper and lower limbs with chest deformity along with other features of Marfan's syndrome. Histopathological findings revealed hyperkeratosis with a scant perivascular inflammatory infiltrate. It was not clear whether this case is the first presentation of pterigium in Marfan's syndrome or congenital lichen planus. To our knowledge, this kind of feature is the first Marfan's syndrome case of its kind.
A Keratin 10 Gene Mutation (Arg156Cys) in a Japanese Patient with Bullous Congenital Ichthyosiform Erythroderma
Authors: Saeki Hidehisa , Hattori Naoko , Mitsui Hiroshi , Adachi Makoto , Imakado Sumihisa , Ishibashi Yasumasa , Tamaki Kunihiko 
Published: July 2014

AbstractWe described a 19‐year old Japanese female with bullous congenital ichthyosiform erythroderma (BCIE) and examined the keratin gene mutation. Physical examination disclosed generalized erythema, ichthyosiform skin with scales, and erosions without palmoplantar keratoderma. Histological examination revealed hyperkeratosis with vacuolar degeneration in the granular layer of the epidermis. Sequence analysis demonstrated a C to G transition at the first position of codon 156 in the keratin 10 gene. The amino acid at codon 156 was deduced to have changed from arginine to cystine. Substitution from arginine to cysteine at codon 156 of the K 10 gene is assumed to be fatal for keratin filament assembly regardless of racial or ethnic difference.
Hot Pop Brown Spot: Erythema Ab Igne Induced by Heated Popcorn
Authors: Donohue Kevin G. , Nahm Walter K. , Badiavas Evangelos , Li Lucy , Pedvis‐Leftick Anita 
Published: July 2014

AbstractErythema ab igne is caused by chronic heat exposure and presents with reticulated pigmentation. Although various causes of erythema ab igne have been reported, in the United States, its incidence has been declining due to the advent of central heating. When seen, it is usually in the setting of local applications of a heated source, such as a hot water bottle, to treat muscular or arthritic pains. We report a novel cause of erythema ab igne occurring in a patient with chronic arthritic pains. This patient applied popcorn kernels, heated in a microwave, to his right wrist and knee for 30 minutes at a time for over four months.
Calciphylaxis with Peau D'Orange Induration and Absence of Classical Features of Purpura, Livedo Reticularis and Ulcers
Authors: Nahm Walter K. , Badiavas Evangelos , Touma Dany J. , Wilkel Caroline S. , Falanga Vincent 
Published: July 2014

AbstractCalciphylaxis is an ill‐defined syndrome that is commonly associated with chronic renal failure. Its heterogeneous clinical features include painful livedo reticularis‐like purpuric patches and plaques, vesicles, irregularly shaped ulcers, and black eschars. Despite demonstration of extensive vascular arteriolar calcification in this syndrome, its exact pathogenesis remains unknown. Here, we report a case of calciphylaxis presenting with indurated plaques without the usual clinical picture of livedo reticulate purpura, ulcers or necrotic eschars. This case provides an opportunity to review the clinical spectrum of calciphylaxis and to discuss the therapeutic approaches and pathogenesis of this syndrome from deep intra‐wall vascular calcification to the resulting infarctions of adjacent tissues.
Juxta‐Clavicular Beaded Lines in a Kidney Transplant Patient Receiving Immunosuppressants
Authors: Lee Mi‐Woo , Park Su‐Kil , Choi Jee‐Ho , Sung Kyung‐Jeh , Moon Kee‐Chan , Koh Jai‐Kyourg 
Published: July 2014

AbstractJuxta‐clavicular beaded lines (JCBL) are unique malformations of sebaceous glands or a variant of sebaceous hyperplasia with characteristic clinical features (1,2). We describe a patient with JCBL, who received immunosuppressants following kidney transplantation. To our knowledge, our patient is the first case of JCBL in a kidney transplant recipient.
Multiple Cutaneous Metastases from Carcinoma of the Penis
Authors: Khandpur Sujay , Reddy Belum Siva Nagi , Kaur Harji 
Published: July 2014

AbstractA 65‐year‐old male patient with carcinoma of the penis in association with bilateral inguinal lymphadenopathy and widespread cutaneous dissemination is described. Histopathological examination of the primary tumor and metastatic sites was suggestive of undifferentiated squamous cell carcinoma. The patient was administered combination chemothrapy using cisplatin, methotrexate, and bleomycin with a good response after three cycles. The case is unique because of the rapid onset and widespread nature of skin metastasis and rare presentation.
A Case of Cutaneous Ganglioneuroma Developing within a Lesion of Seborrheic Keratosis
Authors: Ohno Sayoko , Horiguchi Yuji , Shintaku Masayuki 
Published: July 2014

AbstractA 67‐year‐old man noticed on the abdominal skin a coin‐sized verrucous plaque, in which a small granulation‐like lesion developed several weeks before the first consultation at our clinic. The histology of the biopsied granulation‐like lesion showed a well demarcated, but not associated with the collagenous capsule, mass of proliferating eosinophilic cells, consisting of intervening spindle‐shaped Schwann cells and mature ganglion cells scattered in the tumor nest. We diagnosed this tumor nest as a ganglioneuroma, which rarely develops in the skin tissue. The simply resected surrounding verrucous lesion was histologically seborrheic keratosis.
Chromoblastomycosis: Report of Two Cases from Nepal
Authors: Agarwalla Arun , Khanal Basudha , Garg Vijay K. , Agrawal Sudha , Jacob Mary , Rani Sudha , Deb Manorama 
Published: July 2014

AbstractChromoblastomycosis is a chronic fungal infection of the skin and subcutaneous tissue caused by dematiaceous fungi. The first case, a 67‐year‐old male farmer, presented with itchy hyperkeratotic, scaly plaques with scarring and black dots on the lateral aspects of his left arm and dorsum of his left hand of 28 years duration. The case was clinically diagnosed as chromoblastomycosis. The second case, a 75‐year‐old farmer, presented with erythematous, crusted, scaly plaques on the dorsum of the left foot of 30 years duration. Initially, a clinical diagnosis of lupus vulgaris was made, but treatment with anti tuberculosis therapy showed no improvement. On the basis of histopathological examinations of skin biopsies and isolation of fungus on culture, both cases were diagnosed as chromoblastomycosis. To the best of our knowledge, these two cases are the first case reports of chromoblastomycosis from Nepal and are presented for their academic interest.
Severe Angioedema Induced by Angiotensin Converting Enzyme Inhibitors: Role of Precipitating Factors
Authors: Kaur Sukhjot , Thami Gurvinder P. , Srinivasan Vadivelu , Singh Ram , Kanwar Amrinder J. 
Published: July 2014

AbstractAngiotensin converting enzyme inhibitors like captopril, enalapril, lisinopril, trandopril and ramipril may rarely induce a life threatening angioedema. We present two cases of severe angioedema induced by enalapril and ramipril along with possible precipitating factors observed in these patients. The importance of prompt recognition and early management of such cases is emphasized.
Erythema Annulare Centrifugum Following Pancreatico‐Biliary Surgery
Authors: Thami Gurvinder P. , Sachdeva Atul , Kaur Sukhjot , Mohan Harsh , Kanwar Amrinder J. 
Published: July 2014

AbstractAnnular erythemas are distinct cutaneous eruptions associated with a variety of causes. Occurrence of erythema annulare centrifugum, a variant of annular erythemas, in the immediate post‐operative period in a patient with surgical intervention in the gall bladder and pancreas region is being described for the first time. Its probable association with surgical trauma is discussed.
Segmentally Distributed Neurofibromatosis Associated with Adenocarcinoma of the Colon
Authors: Kim Seong Eon , Heo Eun‐Phil , Yoon Te‐Jin , Kim Tae‐Heung 
Published: July 2014

AbstractNeurofibromatosis can be associated with various malignancies, but an association with adenocarcinoma is extremely rare. A 61‐year‐old man who had been diagnosed with adenocarcinoma of the hepatic flexure of the colon was referred for segmentally located, multiple café‐au‐lait spots and tumors on his back and axillary freckles for 40 years. Histopathologic examination of the tumor was consistent with the neurofibromatosis. We report an unusual case of type I neurofibromatosis associated with adenocarcinoma of the colon that was clinically similar to segmental neurofibromatosis.
Malignant Melanoma of the Buttock Presenting as a Buruli Ulcer
Authors: Mwanatambwe Milanga , Yajima Mikihisa , Etuaful Samuel , Suzuki Keiji , Nishigai Keiko , Asiedu Kingsley , Yamada Nobutaka , Asano Goro 
Published: July 2014

AbstractWe report an unusual case of malignant melanoma clinically diagnosed as Buruli ulcer, that arose in a 13‐year‐old boy and presented as an ulcerated, fungating 2 cm mass on the right buttock. The tumor showed the histology and immunohistology of a malignant melanoma. We present this interesting case of malignant melanoma of soft tissue, arising in an unusual location of the body. The tumor presented with clinical features of Buruli ulcer in an area endemic for this disease as well as other tropical ulcerations. Neoplasms, including melanoma, should be considered in the differential diagnosis of Buruli ulcer in endemic areas.
A Study from Nepal Showing No Correlation between Lichen Planus and Hepatitis B and C Viruses
Authors: Garg Vijay Kumar , Karki B.M.S , Agrawal Sudha , Agarwalla Arun , Gupta Ritu 
Published: July 2014

AbstractA total number of 86 cases of Lichen planus (LP) were seen over a period of one and a half years. This constituted 0.58% of 14833 new dermatological patients seen. Hepatitis B and C viral (HBV & HCV) serology was carried out in 64 patients and 43 age and sex matched controls. In the examined patients, 35 (54.27%) had the skin lesions only. Oral lesions were present in 15 (23.4%) of the patients in addition to skin lesions, while 14 (21.9%) had only oral involvement. Serology for HBsAg and HCV was negative in all types of LP patients and the controls. In Nepal, HBV and HCV seem to be not important in the pathogenesis of LP.
Pseudoxanthoma Elasticum (PXE)‐like Calcification in Adult Dermatomyositis
Authors: Gushi Akiyo , Kanekura Takuro , Mochitomi Yuji , Kawabata Hisashi , Kanzaki Tamotsu 
Published: July 2014

AbstractA case of pseudoxanthoma elasticum (PXE)‐like calcification in adult dermatomyositis (DM) is described. The patient was a 38‐year‐old woman with a history of dermatomyositis for 3 months. Yellowish, hard, papulo‐plaque lesions, which looked like those of pseudoxanthoma elasticum, were noted on her left axilla. Calcium deposition was confirmed by X‐ray, histopathological, and electron microscopic examinations. Histopathological and histochemical examinations showed acicular calcium deposition in the middle and deep dermis surrounded by mucin. Electron microscopic examination revealed that the calcium deposition was not on collagen fibers. These morphological features were distinct from those of PXE. We proposed the possibility that degenerated mucin or degenerated elastic fiber might result in subsequent calcium deposition in reticular calcinosis in adult DM. The calcification clinically disappeared without any specific treatment except for prednisolone and cyclophosphamide.
A Case of Tufted Hair Folliculitis
Authors: Isomura Iwao , Morita Akimichi , Tamada Yasuhiko 
Published: July 2014

AbstractA 35‐year‐old man developed red papules and plaques with alopecia and hair tufts on the parietal and occipital areas of his scalp. Each tuft was comprised of 5 to 25 hairs arising from individual hair follicules. Histopathological findings showed a dense infiltration of plasma cells in the dermis. Based on these findings, he was diagnosed as tufted hair folliculitis. Oral minocycline and topical gentamicin were not effective, but the patient responded well to four weeks of oral refampicin.
A Case of Disseminated and Recurrent Infundibulofolliculitis Responsive to Treatment with Systemic Isotretinoin
Authors: Çalka Ömer , Metin Ahmet , Özen Süleyman 
Published: July 2014

AbstractWe report a 16‐year‐old Turkish patient who developed disseminated and recurrent infundibulofolliculitis (DRIF) and responded well to systemic isotretinoin therapy after three months.
Levofloxacin Alone Efficiently Treated a Cutaneous Mycobacterium fortuitum Infection
Authors: Fujita Nobuhiro , Utani Atsushi , Matsumoto Fumiaki , Matsushima Hironori , Kakuta Mari , Hatamochi Atsushi , Shinkai Hiroshi 
Published: July 2014

AbstractCutaneous infections with Mycobacterium (M.) fortuitum are rare, and some cases resist treatment. We report two cases of cutaneous M. fortuitum infection successfully treated with levofloxacin alone.
Induction of Darier's Disease by Repeated Irradiation by Ultraviolet B; Protection by Sunscreen and Topical Ascorbic Acid
Authors: Heo Eun‐Phil , Park Sun‐Hoo , Yoon Tae‐Jin , Kim Tae‐Heung 
Published: July 2014

AbstractDarier's disease, keratosis follicularis, is frequently aggravated by sun exposure. Although there have been reports of Darier's disease reproduced by repeated exposure to ultraviolet B, little is known about its photo‐protection. We artificially induced Darier's disease in a 47‐year‐old Korean man, and tested the protection afforded by sunscreen and topical ascorbic acid. Complete lesions of Darier's disease arose with repeated exposure of ultraviolet B (2600 mJ/cm2 for 10 days), and sunscreen and topical ascorbic acid protected against its appearance. This result strongly suggests that sunscreen and ascorbic acid would be very helpful in preventing the aggravation of Darier's disease caused by sun exposure.
Clinical Manifestations of Hand Eczema Compared by Etiologic Classification and Irritation Reactivity to SLS
Authors: Kang Yun Chul , Lee Sanghoon , Ahn Sung Ku , Choi Eung Ho 
Published: July 2014

AbstractHand eczema is a common skin disease. Because of its variable etiologies and clinical manifestations, it is difficult to determine the etiology from the clinical manifestation. Among the contact allergens, nickel is the most common. Patients with hand eczema and a nickel allergy have a poorer prognosis than patients without a nickel allergy. The reason is still uncertain; suggestions include persistent exposure to nickel or a weak skin barrier. The purpose of our study was to identify the characteristic clinical manifestations by etiology and to compare the skin barrier state between patients with nickel allergies and those without them. Ninety‐three patients were classified into 4 types; irritation contact type, allergic contact type, atopic type and mixed type. After the sodium lauryl sulfate (SLS) test to compare the skin barrier state, visual score and transepidermal water loss (TEWL) were measured and analyzed statistically. From this study, it was not possible to ascertain a statistical difference, however a few characteristic clinical manifestations according to etiology can be stated. There was no difference in the visual scoring system or the TEWL after the SLS irritation test between the nickel‐allergy group and the non‐allergy group. Therefore, we believe that the poor prognosis of hand eczema with nickel allergy may be due to the nickel allergy itself rather than skin barrier state.
Benign Neonatal Hemangiomatosis in a Pre‐term Infant
Authors: Bubnoff Dagmar Von , Bieber Thomas , Steen Kay 
Published: July 2014

AbstractBenign neonatal hemangiomatosis (BNH) is a condition of multiple neonatal strawberry hemangiomas limited to the skin. Characteristically, a rapid proliferative growth phase is followed by a prolonged involutional phase. Regression of cutaneous lesions usually starts in the fourth month, but variations until complete involution are high for individial lesions. Disseminated neonatal hemangiomatosis (DNH) represents a serious multisystemic disorder with hemangiomas in different organs and the skin. Early evaluation of the patients and treatment of visceral hemangiomas is of crucial importance. While solitary hemangiomas have been reported to occur more commonly in pre‐term infants, prematurity has rarely been described in the literature as being associated with BNH.
Nutritional and Vitamin Status of Non‐Healing Wounds in Patients Attending a Tertiary Hospital in India
Authors: Agrawal Sudha , Pandey Shyam Sundar , Shukla Vijay Kumar , Kaur Paramjeet 
Published: July 2014

AbstractNon‐healing wounds are a common cause of morbidity worldwide. The wounds are the result of inadequate repair in an optimum period and are due to the presence of predisposing factors. The abnormalities of certain biochemical factors are important in impeding wound healing. One hundred patients with non‐healing wounds of more than six weeks duration were studied for nutritional and vitamin status and their correlation with healing time. The healing time was significantly prolonged in patients with serum protein concentrations below 6 gram/dl, but the healing time was not correlated with the concentrations of vitamin C or vitamin E. Anemia also did not alter the healing time. Adequate protein intake is the most important prerequisite for good wound healing.
The Role of Oxidants and Antioxidants in Generalized Vitiligo
Authors: Yildirim Mehmet , Baysal Vahide , Inaloz H. Serhat , Kesici Demet , Delibas Namik 
Published: July 2014

AbstractOxidative stress may be induced by increasing the generation of reactive oxygen species (ROS) and other free radicals. The generation of ROS is known to be associated with a decrease in antioxidant levels. In the present study, the role of oxidative stress was assessed in the pathogenesis of generalized vitiligo. Superoxide dismutase (SOD), glutathione peroxidase (GSH‐Px), and glutathione (GSH) levels in erythrocytes and serum malondialdehyde (MDA) and nitric oxide (NO) levels were investigated in 24 patients with generalized vitiligo and 20 healthy controls. Our results indicated that significantly increased levels of erythrocyte SOD, serum MDA, and NO were associated with a marked reduction of erythrocyte GSH‐Px and GSH activities in patients with generalized vitiligo (p<0.05). Our observations suggest that the presence of an imbalance in the oxidant‐antioxidant system might play a role in the pathogenesis of vitiligo. Our results further support the concept that free radical‐mediated damage may be the initial pathogenic event in melanocyte degeneration in generalized vitiligo.
Onychomycosis and the Diagnostic Significance of Nail Biopsy
Authors: Grover Chander , Reddy Belum Siva Nagi , Chaturvedi Krishnamoorthy Uma 
Published: July 2014

AbstractOnychomycosis is the most common cause of deformed nails. It is often confused clinically with other nail diseases such as psoriasis. A cross sectional study was carried out in 120 clinically suspected onychomycosis patients to assess the diagnostic utility of nail unit histopathology. The majority of the patients were males (72.5%) in the age group of 20–40 years (55%). Involvement of fingernails alone (37.5%) was found to be more common than toenails (12.5%). Distal and lateral subungual onychomycosis [DLSO] (76.6%) was the predominant morphological type noted. Direct microscopy with 10% potassium hydroxide (KOH) preparation revealed fungal filaments in 82.5% of the cases. Mycological culture on Sabouraud's dextrose agar with and without cycloheximide indicated fungal isolates in 44% of the cases, with Trichophyton mentagrophytes being the most common isolate (38.3%). The combined approach with KOH preparation and culture showed the evidence of fungus in 103 cases (85.8%). Of the rest of the 17 cases in whom both these procedures failed to confirm a diagnosis, nail unit biopsy was carried out in 15 consenting patients. Fungal hyphae (better demonstrable on PAS staining) were evident in 14 cases (93.3%). Other histopathological features observed among these patients were subungual hyperkeratosis, neutrophilic infiltrate, parakeratosis, hemorrhage, and serum crusts. We concluded that histopathological examination of nails is a valuable diagnostic aid in onychomycosis, especially if routine parameters fail to establish a diagnosis.
A Case of Pustulosis Palmaris et Plantaris that Began as Generalized Pustular Eruption
Authors: Yoshida Yoko , Nishimura Youichi , Tanaka Toshihiro 
Published: July 2014

AbstractA 65‐year‐old woman suddenly developed a widespread sterile pustular outbreak with high pyrexia. Many pustules appeared on her hands, including both the dorsal and the palmer side, and a few pustule appeared on her trunk and arms in the pattern of acute generalized pustular bacterid. Histopathology of the eruption showed subcorneal pustules. The eruption and pyrexia did not resolve with any of several antibiotics and NSAIDs, but resolved with the oral etretinate. Thereafter, pustules and scaly erythema remained on the arch of the foot and thenar of the palm, typical of pustulosis palmaris et plantaris.
Becker's Nevus with Ipsilateral Breast Hypoplasia: Improvement with Spironolactone
Authors: Jung Jae Hoon , Kim You Chan , Park Hyang Joon , Cinn Yong Woo 
Published: July 2014

AbstractIpsilateral breast hypoplasia is a rare abnormality in Becker's nevus. The pathogenesis of the breast hypoplasia is not understood, but an increased level of androgenic receptor in the affected area may play a role. We report a case of Becker's nevus with ipsilateral breast hypoplasia. Spironolactone, an anti‐androgenic agent, was tried for treatment of the hypoplasia, and, one month later, breast enlargement was seen in only the hypoplastic breast with Becker's nevus. This finding supports the theory that breast hypoplasia in Becker's nevus is related to an increase in androgenic receptor.