Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma

Bowden, Paul Edward 2010. Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. Journal of Investigative Dermatology 130 (2) , pp. 336-338. 10.1038/jid.2009.395

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Abstract

Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders. In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has nail involvement. Furthermore, screening of control DNA samples identified 3 in 335 individuals (1%) who had a mutation (K6c p.Asn172del), but the phenotype was not ascertained. However, this raises the question as to whether individuals with sensitive feet bear specific KRT6C mutations and whether a general population screen should be considered.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RL Dermatology
Publisher:	Society for Investigative Dermatology
ISSN:	0022-202X
Last Modified:	12 Jun 2019 02:22
URI:	https://orca.cardiff.ac.uk/id/eprint/30023

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