Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency

Junctional epidermolysis bullosa (JEB) is a clinically and genetically hete rogeneous recessively inherited blistering disease of the skin and mucous m embranes due to impaired epithelial adhesion. In particular, defective expr ession of the 180-kD bullous pemphigoid antigen (BP180) has been correlated to a non-lethal (non-Herlitz) form of JEB, generalized atrophic benign epi dermolysis bullosa (GABEB), characterized by widespread skin blistering hea ling with atrophy and by atrophic alopecia with onset in childhood. We repo rt the case of a 33-year-old man suffering from a generalized blistering sk in disorder since birth. He also presented nail dystrophy and tooth abnorma lities. Mucosal involvement was limited to gingival erosion. Alopecia was a bsent and body, axillary and pubic hair were normal. Immunofluorescence ana lysis showed a markedly reduced expression of BP180, electron microscopy st udies evidenced hypoplastic hemidesmosomes and Northern blot analysis confi rmed a striking decrease in the amount of BP180 mRNA. The clinical features of our patient confirm that BP180 deficiency usually results in a non-Herl itz JEB form. However, the degree of skin, mucous membranes and hair involv ement appears more variable and less typical than originally described for GABEB. Copyright (C) 2001 S. Karger AG, Basel.