Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes
نویسندگان
چکیده
منابع مشابه
Inherited epidermolysis bullosa: clinical and therapeutic aspects*
Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be ...
متن کاملInherited epidermolysis bullosa
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, r...
متن کاملEpidermolysis bullosa acquisita: what's new?
Type VII collagen is an adhesion molecule of the extracellular matrix in epithelial basement membranes, and the main constituent of anchoring fibrils at the dermal-epidermal junction (DEJ). Autoimmunity against this protein is causing the rare organ-specific epidermolysis bullosa acquisita (EBA). EBA is a rare acquired, heterogeneous, chronic blistering disease of skin disease of skin and mucou...
متن کاملEye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry.
PURPOSE To determine the frequency of ocular manifestations in inherited epidermolysis bullosa (EB) within the continental United States and to define the estimated cumulative risks of developing nonscarring (blisters or erosions) and scarring corneal manifestations within each major EB subtype over time. DESIGN Observational (cross-sectional and longitudinal). METHODS Up to 16 years of lon...
متن کاملGastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry.
BACKGROUND Portions of the gastrointestinal (GI) tract may be severely involved in patients with inherited epidermolysis bullosa (EB). Evidence-based data are lacking as to the frequency and time of onset of these complications. PATIENTS AND METHODS Cross-sectional and longitudinal data were analyzed on 3,280 and 450 patients with EB, respectively, who were followed from 1986-2002 as part of ...
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ژورنال
عنوان ژورنال: Experimental Dermatology
سال: 2018
ISSN: 0906-6705,1600-0625
DOI: 10.1111/exd.13668