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  • PMID: 22639970 was deleted because it is a duplicate of PMID: 23106673
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Pediatr Dermatol. 2012 Nov-Dec;29(6):732-7. doi: 10.1111/j.1525-1470.2012.01786.x.

Epidermolysis bullosa pruriginosa: further clarification of the phenotype.

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  • 1Department of Dermatology, Mayo Clinic, Rochester, Minnesota 55905, USA.

Abstract

A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB). The pruriginosa variant (DEB-Pr) is unique because its initial presentation may be delayed until adolescence or adulthood, and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB. We describe three families with multiple affected members in which DEB-Pr shows an autosomal-dominant inheritance pattern. All affected individuals were examined, and three previously unreported COL7A1 mutations were identified.

© 2012 Wiley Periodicals, Inc.

PMID:
23106673
[PubMed - indexed for MEDLINE]
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