CLINICAL AND LABORATORY INVESTIGATIONS
Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype
Article first published online: 29 OCT 2012
© 2012 Wiley Periodicals, Inc.
Volume 29, Issue 6, pages 732–737, November/December 2012
How to Cite
Brick, K., Hand, J. L., Frankel, A. S., Siegel, D. H., Thomas, K. B., el-Azhary, R. and Krol, A. (2012), Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype. Pediatric Dermatology, 29: 732–737. doi: 10.1111/j.1525-1470.2012.01786.x
- Issue published online: 29 OCT 2012
- Article first published online: 29 OCT 2012
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.