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Article

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Journal of dermatological science - 1 Dec 2007

Liao Haihui, Sayers Jane M, Wilson Neil J, Irvine Alan D, Mellerio Jemima E, Baselga Eulalia, Bayliss Susan J, Uliana Vera, Fimiani Michele, Lane E Birgitte, McLean W H Irwin, Leachman Sancy A, Smith Frances J D

Abstract excerpt

BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratin disorder, subdivided into two major variants, PC-1 and PC-2. Predominant characteristics include hypertrophic nail dystrophy, focal palmoplantar keratoderma and oral leukokeratosis. Multiple steatocystomas that develop during puberty are a useful feature distinguishing PC-2 from PC-1. At the molecular level it has been shown that...

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PMID: 17719747
DOI: 10.1016/j.jdermsci.2007.07.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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