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180‐kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype
Author(s) -
Cinzia Mazzanti,
Tommaso Gobello,
Brunella Posteraro,
Mauro Paradisi,
Guerríno Meneguzzi,
Luca Massimo Chinni,
Giovanna Zambruno
Publication year - 1998
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.1998.02226.x
Subject(s) - medicine , dermatology , bullous pemphigoid , epidermolysis bullosa , junctional epidermolysis bullosa (veterinary medicine) , pathology , scalp , phenotype , antibody , immunology , biology , gene , biochemistry
Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare variant of non‐lethal junctional epidermolysis bullosa characterized by generalized skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. Other features include mild mucosal blistering, dental abnormalities and nail dystrophy. We report four additional cases of GABEB from two families originating from the same isolated village. The patients shared an unusually mild clinical phenotype with cutaneous blisters strictly limited to trauma sites and rare occurrence of oral mucosal lesions. Scalp, eyelash and eyebrow alopecia was present in only two cases. Immunofluorescence studies showed a markedly reduced expression of the 180‐kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients.