Epidermolysis bullosa pruriginosa: Further clarification of the phenotype

Katherine Brick, Jennifer L. Hand, Amy S. Frankel, Dawn H. Siegel, Kelly B. Thomas, Rokea El-Azhary, Alfons Krol

Research output: Contribution to journalArticle

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)732-737
Number of pages6
JournalPediatric Dermatology
Volume29
Issue number6
DOIs
Publication statusPublished - 2012

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Cite this

Brick, K., Hand, J. L., Frankel, A. S., Siegel, D. H., Thomas, K. B., El-Azhary, R., & Krol, A. (2012). Epidermolysis bullosa pruriginosa: Further clarification of the phenotype. Pediatric Dermatology, 29(6), 732-737. https://doi.org/10.1111/j.1525-1470.2012.01786.x