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Article

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.

The British journal of dermatology - 1 Mar 2020

Samuelov L, Smith F J D, Hansen C D, Sprecher E

Abstract excerpt

BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). The establishment of an international registry containing clinical and molecular data led to the development of a disease classification based on the mutant gene and associated features. OBJECTIVES: To harness the same resource to clarify the...

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PMID: 31823354
DOI: 10.1111/bjd.18794

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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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