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

Research output: Contribution to journalLetter

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

Fingerprint

Desmoglein 1
Keratin-16
Keratin-1
Desmoplakins
Palmoplantar Keratoderma
Genetic Databases
Phenotype
Mutation
Fingers
Genes
Hyperkeratosis of the palms and soles and esophageal papillomas

Keywords

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

Cite this

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title = "Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes",
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.",
keywords = "focal palmoplantar keratoderma, striate palmoplantar keratoderma, desmoglein 1, autosomal dominant",
author = "M. Zamiri and Wilson, {N. J.} and O'Toole, {E. A.} and Smith, {F. J. D.}",
note = "FJDS, NJW and MZ were supported by The Centre for Dermatology and Genetic Medicine at the University of Dundee, which is funded by a Wellcome Trust Strategic Award (098439/Z/12/Z), and FJDS and NJW were supported by a grant from the Pachyonychia Congenita Project (to F.J.D.S, www.pachyonychia.org).",
year = "2019",
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doi = "10.1111/bjd.17839",
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journal = "British Journal of Dermatology",
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Novel mutations in desmoglein 1 : Focal palmoplantar keratoderma in milder phenotypes. / Zamiri, M. (Lead / Corresponding author); Wilson, N. J.; O'Toole, E. A.; Smith, F. J. D.

In: British Journal of Dermatology, Vol. 181, No. 3, 01.09.2019, p. 618-620.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Novel mutations in desmoglein 1

T2 - Focal palmoplantar keratoderma in milder phenotypes

AU - Zamiri, M.

AU - Wilson, N. J.

AU - O'Toole, E. A.

AU - Smith, F. J. D.

N1 - FJDS, NJW and MZ were supported by The Centre for Dermatology and Genetic Medicine at the University of Dundee, which is funded by a Wellcome Trust Strategic Award (098439/Z/12/Z), and FJDS and NJW were supported by a grant from the Pachyonychia Congenita Project (to F.J.D.S, www.pachyonychia.org).

PY - 2019/9/1

Y1 - 2019/9/1

N2 - 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.

AB - 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.

KW - focal palmoplantar keratoderma

KW - striate palmoplantar keratoderma

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M3 - Letter

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