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Article

Novel keratin 17 mutations in pachyonychia congenita type 2.

The Journal of investigative dermatology - 1 May 2001

Smith F J, Coleman C M, Bayoumy N M, Tenconi R, Nelson J, David A, McLean W H

Abstract excerpt

Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A)...

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Source

Identifiers

PMID: 11348474
DOI: 10.1046/j.1523-1747.2001.01335.x

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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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