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 Citations (Scopus)

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
StatePublished - 2012

Fingerprint

Epidermolysis Bullosa Dystrophica
Phenotype
Collagen Type VII
Inheritance Patterns
Pruritus
Cicatrix
Skin
Mutation
Epidermolysis Bullosa Pruriginosa

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

Epidermolysis bullosa pruriginosa : Further clarification of the phenotype. / Brick, Katherine; Hand, Jennifer L.; Frankel, Amy S.; Siegel, Dawn H.; Thomas, Kelly B.; El-Azhary, Rokea; Krol, Alfons.

In: Pediatric Dermatology, Vol. 29, No. 6, 2012, p. 732-737.

Research output: Contribution to journalArticle

Brick, K, Hand, JL, Frankel, AS, Siegel, DH, Thomas, KB, El-Azhary, R & Krol, A 2012, 'Epidermolysis bullosa pruriginosa: Further clarification of the phenotype', Pediatric Dermatology, vol. 29, no. 6, pp. 732-737. https://doi.org/10.1111/j.1525-1470.2012.01786.x
Brick K, Hand JL, Frankel AS, Siegel DH, Thomas KB, El-Azhary R et al. Epidermolysis bullosa pruriginosa: Further clarification of the phenotype. Pediatric Dermatology. 2012;29(6):732-737. https://doi.org/10.1111/j.1525-1470.2012.01786.x
Brick, Katherine ; Hand, Jennifer L. ; Frankel, Amy S. ; Siegel, Dawn H. ; Thomas, Kelly B. ; El-Azhary, Rokea ; Krol, Alfons. / Epidermolysis bullosa pruriginosa : Further clarification of the phenotype. In: Pediatric Dermatology. 2012 ; Vol. 29, No. 6. pp. 732-737.
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