Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network
نویسندگان
چکیده
منابع مشابه
The Epidermolysis bullosa house in Salzburg
With a reported prevalence of 4.6 per million, Epidermolysis bullosa (EB) is a rare disease comprising a clinically as well as genetically heterogeneous group of inherited mechano-bullous disorders. Minor trauma leads to blisters and erosions on skin and mucous membranes. Based on mutations in genes encoding for structural proteins of basal keratinocytes or within mucocutaneous basement membran...
متن کاملEpidermolysis bullosa and cancer.
Epidermolysis bullosa (EB) encompasses a group of inherited blistering skin disorders classified into three main subtypes of simplex, junctional and dystrophic. In recent years there have been substantial advances in our understanding of the molecular basis of these conditions and in the management of such patients. In spite of this progress, squamous cell carcinoma (SCC) is still a major cause...
متن کاملEpidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.
OBJECTIVE To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. DESIGN Observational study (cross-sectional and longitudinal). SETTING Australian private dermatology practice, inpatient ward, and outpatient clinic. PATIENTS Systematic case finding of patients with EB simplex, junctional EB (JEB...
متن کاملEpidermolysis bullosa acquisita.
Autoimmunity to type-WI collagen is characterized by autoantibodies predominantly of lgG class to the non-collagenous domain of type-WI collagen present in the anchoring fibrils which bind basement membrane lamina densa to the anchoring plaques in the dermis. This results in a sublami.na densa split with a blister formation. Type WI collagen autoim.munity is heterogenous in its clinical spectru...
متن کاملJunctional epidermolysis bullosa.
Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few b...
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ژورنال
عنوان ژورنال: Wiener klinische Wochenschrift
سال: 2016
ISSN: 0043-5325,1613-7671
DOI: 10.1007/s00508-016-1133-3