The investigation of a family of dystrophic epidermolysis bullosa pruriginosa

A family with dystrophic epidermolysis bullosa pruriginosa, a disease of autosomal dominant inheritance, was investigated. Fifteen patients (8 males and 7 females) in 36 members of 5 generations were identified on the pedigree, and the proband was an 18-year-old female who had several vesicles at both ankles originally when she was one year old. Gradually her skin lesions manifested as violaceous papules, nodules with pruritus which induced by mild trauma or scratching on shins, ankles and elbows, and several toenails were deformed. Histologically, several fissures under the epidermis, small epidermoid cysts and a few of lymphocytes infiltrating in the dermis were found. The other 14 patients showed similar skin lesions to the proband.