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Article

A large mutational study in pachyonychia congenita.

The Journal of investigative dermatology - 1 May 2011

Wilson Neil J, Leachman Sancy A, Hansen C David, McMullan Alexandra C, Milstone Leonard M, Schwartz Mary E, McLean W H Irwin, Hull Peter R, Smith Frances J D

Abstract excerpt

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we report genetic...

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Source

Identifiers

PMID: 21326300
DOI: 10.1038/jid.2011.20

Genes

KRT16
KRT17

Provenance

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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