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epidermolysis bullosa dystrophica

  1. Subject h.epidermolysis bullosa dystrophica
    Subject h.Epidermolysis Bullosa Dystrophica
    English X referencesCockayne-Touraine Disease
    Epidermolysis Bullosa, Dystrophic
    Hallopeau-Siemens Disease
    Scope note in EnglishForm of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
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