نتایج جستجو برای: epidermolysis bullosa

تعداد نتایج: 3618  

Journal: :Anais brasileiros de dermatologia 2011
Carolina Porto Cotrim Fernanda Tolstoy de Simone Ricardo Barbosa Lima Carlos Baptista Barcaui Maria Auxiliadora Jeunon Sousa Gabriela Lowy

Acquired melanocytic lesions resembling malignant melanoma have been described in all major categories of Epidermolysis bullosa and referred to as "Epidermolysis bullosa nevi''. They easily induce to diagnostic error, although no malignant transformation has been reported. We report the development of a large acquired melanocytic nevus at a site of recurrent blisters in a 5-year-old child with ...

Journal: :The Journal of investigative dermatology 2010
Jouni Uitto Leena Bruckner-Tuderman John A McGrath Rainer Riedl Clare Robinson

Epidermolysis bullosa, a group of heritable blistering disorders, shows extensive phenotypic variability due to mutations in as many as 20 distinct genes. There is no cure for this devastating group of disorders; however, a number of preclinical developments show promise, and some approaches have already reached the stage of early clinical trials. Dystrophic Epidermolysis Bullosa Research Assoc...

2016
Kenan Yilmaz Deniz Demirci Numan Baydilli Sinan Nazlim

Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presentes with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological symptoms. On cystoscopy, suspected bullous bladder lesions were observed. Mesonephroid, intestinal and squamous metaplasia is reported here f...

Journal: :The Journal of clinical investigation 1987
D T Woodley E J O'Keefe J A McDonald M J Reese R A Briggaman W R Gammon

Autoantibodies in the skin and sera of patients with epidermolysis bullosa acquisita bind to a large matrix molecule within the lamina densa region of skin basement membrane. At the site of these immune complexes, the epidermis separates from the dermis, which creates a subepidermal blister just below the lamina densa. The target molecule for the autoantibodies is in close apposition to fibrone...

Journal: :Archives of dermatology 2011
Hong Liang Tey Andrew D Lee Noor Almaani John A McGrath Kyle C Mills Gil Yosipovitch

BACKGROUND Epidermolysis bullosa pruriginosa is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by intense pruritus, secondary scratching-induced lesions, and pronounced scarring. OBSERVATIONS We describe a patient with epidermolysis bullosa pruriginosa who was misdiagnosed as having psychogenic pruritus for several years. Except for nail (toenail) dystrophy, no feat...

Journal: :iranian journal of basic medical sciences 0
armita kakavand hamidi department of biology, faculty of sciences, guilan university, rasht, iran mohammad moghaddam hematology research center, shiraz university of medical sciences, shiraz, iran nasim hatamnejadian skin research center, shahid beheshti university of medical sciences, tehran, iran ahmad ebrahimi cellular-molecular research center (cmerc), research institute for endocrine sciences, shahid beheshti university of medical sciences, tehran, iran

objective(s): epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. in dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type vii collagen protein which produce anchoring fibrils. type vii ...

Journal: :dental research journal 0
a. p. javed prashanth shenai laxmikanth chatra k. m. veena prasanna kumar rao rachana prabhu

epidermolysis bullosa (eb) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. junctional variety of eb is also associated with enamel hypoplasia. amelogenesis imperfecta presents with abnormal formation of the enamel both in deciduous and permanent dentition. this article describes a previously unreported case of amelogenesis...

ژورنال: پوست و زیبایی 2011
اخوان, علی, شبانی, مسعود,

Epidermolysis bullosa (EB) is a group of dermatological conditions characterized by development of bullae and ulcers following trivial trauma. One of the most important complications of EB is squamous cell carcinoma. While occurance of skin squamous cell carcinoma is common in epidermolysis bullosa, its occurence on mucosal surface is rare. Herein, we report two members of a family who develope...

Journal: :Journal of medical genetics 1992
L al-Imara A J Richards R A Eady I M Leigh M Farrall F M Pope

Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.

Journal: :AANA journal 2004
Kelly L Crowley Yuri O Shevchenko

Epidermolysis bullosa is an inherited skin disease that leads to an array of medical problems. Patients are susceptible to blistering and scar formation following even minor trauma. These patients may present with scarring, limiting the range of motion of their temporal mandibular joint. This case report describes a 15-year-old patient with epidermolysis bullosa presenting for contracture relea...

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