Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous recessively inherited blistering disease of the skin and mucous membranes due to impaired epithelial adhesion. In particular, defective expression of the 180-kD bullous pemphigoid antigen (BP180) has been correlated to a non-lethal (non-Herlitz) form of JEB, generalized atrophic benign epidermolysis bullosa (GABEB), characterized by widespread skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. We report the case of a 33-year-old man suffering from a generalized blistering skin disorder since birth. He also presented nail dystrophy and tooth abnormalities. Mucosal involvement was limited to gingival erosion. Alopecia was absent and body, axillary and pubic hair were normal. Immunofluorescence analysis showed a markedly reduced expression of BP180, electron microscopy studies evidenced hypoplastic hemidesmosomes and Northern blot analysis confirmed a striking decrease in the amount of BP180 mRNA. The clinical features of our patient confirm that BP180 deficiency usually results in a non-Herlitz JEB form. However, the degree of skin, mucous membranes and hair involvement appears more variable and less typical than originally described for GABEB.

Keywords:
Junctional epidermolysis bullosa, BP180 deficiency, Clinical phenotype
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© 2001 S. Karger AG, Basel
2001
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