منابع مشابه
Inherited 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 کاملInherited 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 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 ...
متن کاملInherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
BACKGROUND Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. OBJECTIVE We sought to arrive at an updated consensus on the class...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2010
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-12