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epidermolysis bullosa simplex


Definition: epidermolysis bullosa in which lesions heal rapidly without scarring; bulla formation is intraepidermal and microscopy reveals basal cell vacuolation and dissolution of tonofibrils; occurs most frequently on the feet of adults after unaccustomed trauma such as long marches; autosomal dominant inheritance caused by mutation in the keratin-5 gene (KRT5) on chromosome 12q or in the keratin-14 gene (KRT14) on 17q.

Synonym(s): epidermolysis bullosa, epidermal type

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.