Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes

M. Zamiri (Lead / Corresponding author), N. J. Wilson, E. A. O'Toole, F. J. D. Smith

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Abstract

Striate palmoplantar keratoderma (SPPK) (OMIM 148700) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of the volar aspects of the fingers extending onto the palm, associated with focal to diffuse hyperkeratosis of the soles.1 It is caused by heterozygous mutations in four different genes: desmoglein 1 (DSG1), desmoplakin (DSP), keratin 1 (KRT1) and keratin 16 (KRT16).1-4 We report three families, one Scottish, one English and one American, with autosomal dominant PPK, due to three previously unreported DSG1 mutations, where the presence of a striate pattern appears linked to the severity of the phenotype. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)618-620
Number of pages3
JournalBritish Journal of Dermatology
Volume181
Issue number3
Early online date1 Mar 2019
DOIs
Publication statusPublished - 1 Sep 2019

Keywords

  • focal palmoplantar keratoderma
  • striate palmoplantar keratoderma
  • desmoglein 1
  • autosomal dominant

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