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Pachyonychia congenita: mutations and clinical presentations

1 May 2001

Abstract excerpt

Pachyonychia congenita (PC) is a group of hereditary disorders characterized by hypertrophic nail dystrophy and associated ectodermal features. Two principal PC syndromes are readily distinguished.1 In PC‐1 (Jadassohn–Lewandowsky syndrome, MIM 167200), pachyonychia is associated with focal palmoplantar keratoderma (PPK), follicular keratoses and oral leukokeratosis. In PC‐2 (Murray–Jackson–Lawler syndrome, MIM...

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PMID: 11359376
DOI: 10.1046/j.1365-2133.2001.04216.x

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