Recently Identified Forms of Epidermolysis Bullosa

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منابع مشابه

Recently Identified Forms of Epidermolysis Bullosa

Epidermolysis bullosa (EB) comprises a collection of clinically diverse inherited blistering diseases that affect the skin and, in some subtypes, mucous membranes and other organs. Currently classified into four main subtypes (EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, mainly based on the level of skin cleavage), the spectrum of EB extends to more than 30 clinical subtypes ...

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Epidermolysis Bullosa Puriginosa: Report of a Case

Epidermolysis Bullosa Puriginosa is a genetic mechanobullous disease characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions that appear at birth or later. Scarring and prurigo are most prominent on the shins. Herein, we report a case with a history of blisters since childhood foll...

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Pretibial Epidermolysis Bullosa: Report of two cases

Pretibial epidermolysis bullosa is a rare variant of hereditary epidermolysis bullosa characterized by the delayed onset of lesions and their localization. We present two cases, a 35-year-old woman and a 21-year-old man. They clinically had pruritus, nodular prurigo-like or lichenified lesions, violaceous scarring, milia, nail dystrophy and in one case albopapuloid lesions on the trunk. Physica...

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Epidemiology 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...

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Epidermolysis 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...

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ژورنال

عنوان ژورنال: Annals of Dermatology

سال: 2015

ISSN: 1013-9087,2005-3894

DOI: 10.5021/ad.2015.27.6.658