Pachyonychia congenita patients with mutations in K6a have more extensive disease compared to patients with mutations in K16

Abstract

Background:  Pachyonychia Congenita (PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16, or KRT17) which can lead to hypertrophic nail dystrophy and palmoplantar keratoderma, among other manifestations. Classically, patients with mutations in K6a and K16 have been grouped to the PC-1 subtype (Jadassohn-Lewandowski type) and K6b and K17 to PC-2 (Jackson-Lawler type).


Objectives:  To describe clinical heterogeneity among PC patients with genetic mutations in K6a and K16.


Methods:  In 2004, the Pachyonychia Congenita Project established the International PC Research ...

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