Projects per year
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 language | English |
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Pages (from-to) | 618-620 |
Number of pages | 3 |
Journal | British Journal of Dermatology |
Volume | 181 |
Issue number | 3 |
Early online date | 1 Mar 2019 |
DOIs | |
Publication status | Published - 1 Sept 2019 |
Keywords
- focal palmoplantar keratoderma
- striate palmoplantar keratoderma
- desmoglein 1
- autosomal dominant
ASJC Scopus subject areas
- Dermatology
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Dive into the research topics of 'Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes'. Together they form a unique fingerprint.Projects
- 1 Finished
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Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)
Barton, G. (Investigator), Campbell, P. (Investigator), Hickerson, R. (Investigator), Leigh, I. (Investigator), McLean, I. (Investigator) & Wyatt, P. (Investigator)
1/08/12 → 30/04/19
Project: Research