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- W1882758100 endingPage "275" @default.
- W1882758100 startingPage "275" @default.
- W1882758100 abstract "Dystrophic epidermolysis bullosa: a review 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" @default.
- W1882758100 created "2016-06-24" @default.
- W1882758100 creator A5065565494 @default.
- W1882758100 date "2015-05-01" @default.
- W1882758100 modified "2023-09-30" @default.
- W1882758100 title "Dystrophic epidermolysis bullosa: a review" @default.
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