释义 |
epidermolysis bullosa dystrophica
ep·i·der·mol·y·sis bul·lo·'sa dys·tro·ph'i·ca [MIM*131705] 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 typeep·i·der·mol·y·sis bul·lo·sa dys·tro·phi·ca (epi-dĕr-moli-sis bu-lōsă dis-trōfi-kă) [MIM*131705] Form in which scarring develops after separation of the entire epidermis with blistering. AcronymsSeeevidence-based design |