UniProtKB/Swiss-Prot

Epidermolysis bullosa dystrophica, autosomal dominant: A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Epidermolysis bullosa dystrophica, Pasini type: A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters. Epidermolysis bullosa dystrophica, with subcorneal cleavage: A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa.

MalaCards based summary

Epidermolysis Bullosa Dystrophica, Autosomal Dominant, also known as albopapuloid dominant dystrophic epidermolysis bullosa, is related to dominant dystrophic epidermolysis bullosa and epidermolysis bullosa dystrophica, and has symptoms including nail dystrophy, abnormal blistering of the skin and nail dysplasia. An important gene associated with Epidermolysis Bullosa Dystrophica, Autosomal Dominant is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin.

OMIM

Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features. Epidermolysis bullosa simplex (see, e.g., 131800) and epidermolysis bullosa junctional (see, e.g., 226700) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively. (131750)