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epidermolysis bullosa dystrophica


Definition: a form of epidermolysis bullosa in which scarring develops after separation of the entire epidermis with blistering; it is inherited as an autosomal dominant (appearing in infancy or childhood) or recessive (present at birth or appearing in early infancy) trait, the latter including lethal and nonlethal types; both dominant and recessive forms are caused by mutation in the gene for type VII collagen (COL7A1) on chromosome 3p.

Synonym(s): dermolytic bullous dermatosis, epidermolysis bullosa, dermal type

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.