Dystrophic epidermolysis bullosa: a review

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.

• Publication year

  2015

• Venue

  Clinical, Cosmetic and Investigational Dermatology

• Publication date

  2015-05-26

• Fields of study

  Medicine

• Identifiers
  DOI 10.2147/CCID.S54681PMID 26064063PMCID 4451851
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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