Generalized atrophic benign form of junctional epidermolysis bullosa.

There are at least six variants of junctional epidermolysis bullosa (JEB). About 20 cases of the generalized atrophic benign variant of JEB (GABEB) have been previously reported. We present an additional case of GABEB, occurring in a 14-year-old girl. Generalized cutaneous blisters occurred since birth and healed without severe scarring or milia, but with slight atrophy. In addition, mucous membrane involvement and hair, nail and tooth abnormalities were found. Electron microscopic examination showed a cleavage within the lamina lucida and the presence of numerically and structurally abnormal hemidesmosomes.

[Xeroderma pigmentosum. Therapeutic indications on the basis of 3 cases seen recently (author's transl)]. / Xéroderma pigmentosum. Les orientations thérapeutiques à propos de 3 cas récemment observés.

This condition is a genodermatosis, seen chiefly around the shores of the Mediterranean, characterised by early pigment disturbances which progress virtually inexorably towards a diffuse epitheliomatosis which usually results in death before the age of 20 years. Progression of the lesions is precipitated by exposure to UV rays. These lesions are seen essentially in exposed areas, in particular oculopalpebral. Treatment is first preventive (decrease in exposure to sun and protection). Otherwise, surgery remains the most effective method: either excision as required, or extensive cervicofacial prophylactic excision followed by grafting.