épidermolyse bulleuse dystrophique dominante

CONT: L'EBD [épidermolyse bulleuse dystrophique] comprend deux sous-types, soit les formes dominantes (EBDD) et récessives (EBDR [épidermolyse bulleuse dystrophique récessive]), qui diffèrent par leur mode de transmission.

OBS: DDEB is an autosomal dominant condition. One parent of an affected person will usually also have the condition.
OBS: There is usually generalized blistering noted at birth. Blistering may be generalized or appear only on the hands, feet, elbows or knees: this is usually due to mechanical trauma. Rarely does scarring cause immobility and deformity of the hands and feet. Small cysts or milia are seen at sites of scarring. There may be mild involvement of the mucous membranes, nails may be thick, dystrophic or destroyed.

CONT: Las formas más localizadas, como la epidermólisis bullosa distrófica dominante pretibial y la pruriginosa, no presentan complicaciones específicas, salvo en el caso de la segunda, las derivadas del rascado.