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Article

First case of pachyonychia congenita in the Czech Republic.

Dermatologic therapy - 1 Jan 2000

Jiráková Anna, Rajská Lucie, Rob Filip, Džambová Martina, Sečníková Zuzana, Göpfertová Dana, Schwartz Mary, Smith Frances, Lotti Torello, Hercogová Jana

Abstract excerpt

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by hypertrophic nail dystrophy, oral leukokeratosis, and painful palmoplantar keratoderma. It is associated with a mutation in one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The International PC Research Registry (IPCRR) confirms that as of January 2014 there have been 547 cases of PC genetically...

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Source

Identifiers

PMID: 25174302
DOI: 10.1111/dth.12142

Genes

KRT16
KRT17

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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