M D Hoffman1, M G Fleming, R W Pearson. 1. Department of Dermatology, Rush-Presbyterian-St Luke's Medical Center, Chicago, Ill, USA.
Abstract
BACKGROUND: We describe a new variant of inherited epidermolysis bullosa and elucidate the clinical, histologic, and ultrastructural features of this condition. OBSERVATIONS: This form of epidermolysis bullosa displays an autosomal dominant inheritance pattern, is characterized by acral bullae, and histologically demonstrates suprabasal clefting with acantholysis. Ultrastructural findings are nonspecific but reminiscent of those observed in benign familial pemphigus. CONCLUSION: Acantholytic epidermolysis bullosa is a rare but distinct clinicopathologic entity that warrants inclusion in the nosologic classification of epidermolysis bullosa.
BACKGROUND: We describe a new variant of inherited epidermolysis bullosa and elucidate the clinical, histologic, and ultrastructural features of this condition. OBSERVATIONS: This form of epidermolysis bullosa displays an autosomal dominant inheritance pattern, is characterized by acral bullae, and histologically demonstrates suprabasal clefting with acantholysis. Ultrastructural findings are nonspecific but reminiscent of those observed in benign familial pemphigus. CONCLUSION: Acantholytic epidermolysis bullosa is a rare but distinct clinicopathologic entity that warrants inclusion in the nosologic classification of epidermolysis bullosa.
Authors: Marcel F Jonkman; Anna M G Pasmooij; Suzanne G M A Pasmans; Maarten P van den Berg; Henk J Ter Horst; Albertus Timmer; Hendri H Pas Journal: Am J Hum Genet Date: 2005-08-17 Impact factor: 11.025