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Article

Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.

The British journal of dermatology - 1 Dec 2009

Gruber R, Wilson N J, Smith F J D, Grabher D, Steinwender L, Fritsch P O, Schmuth M

Abstract excerpt

Pachyonychia congenita (PC), a rare autosomal-dominant keratin disorder caused by mutations in keratin genes KRT6A/B, KRT16 or KRT17, is characterized by painful plantar keratoderma and hypertrophic nail dystrophy. Loss-of-function mutations in the filaggrin (FLG) gene underlie the most prevalent...

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Source

Identifiers

PMID: 19785597
DOI: 10.1111/j.1365-2133.2009.09471.x

Genes

FLG
KRT16
KRT17

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19785597-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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