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Dystrophic epidermolysis bullosa: a review

Authors Shinkuma S

Received 14 January 2015

Accepted for publication 31 March 2015

Published 26 May 2015 Volume 2015:8 Pages 275—284


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 6

Editor who approved publication: Dr Jeffrey Weinberg

Satoru Shinkuma

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: type VII collagen, anchoring fibril, subtypes, revertant mosaicism, treatment, gene therapy

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