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Clin Cosmet Investig Dermatol. 2015 May 26;8:275-84. doi: 10.2147/CCID.S54681. eCollection 2015.

Dystrophic epidermolysis bullosa: a review.

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1
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Abstract

Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and malignancy. The disease is usually diagnosed by immunofluorescence mapping and/or transmission electron microscopy and subsequently subclassified into one of 14 subtypes. This review provides practical knowledge on the disease, including new therapeutic strategies.

KEYWORDS:

anchoring fibril; gene therapy; revertant mosaicism; subtypes; treatment; type VII collagen

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