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

doi:10.1111/j.1525-1470.2012.01786.x

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

Dermatology

Research output: Contribution to journal › Article › peer-review

12 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 language	English (US)
Pages (from-to)	732-737
Number of pages	6
Journal	Pediatric dermatology
Volume	29
Issue number	6
DOIs	https://doi.org/10.1111/j.1525-1470.2012.01786.x
State	Published - 2012

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Dermatology

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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.",

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AU - Thomas, Kelly B.

AU - El-Azhary, Rokea

AU - Krol, Alfons

PY - 2012

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AB - 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.

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Epidermolysis bullosa pruriginosa: Further clarification of the phenotype

Abstract

ASJC Scopus subject areas

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