• K M Spaunhurst, A M Hogendorf, F J D Smith, B Lingala, M E Schwartz, A Cywinska-Bernas, K J Zeman, and J Y Tang.
• Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
• Br. J. Dermatol. 2012 Apr 1; 166 (4): 875-8.

BackgroundPachyonychia 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 KRT6A and KRT16 have been grouped to the PC-1 subtype (Jadassohn-Lewandowsky type) and KRT6B and KRT17 to PC-2 (Jackson-Lawler type).ObjectivesTo describe clinical heterogeneity among patients with PC who have genetic mutations in KRT6A and KRT16.MethodsIn 2004, the Pachyonychia Congenita Project established the International PC Research Registry (IPCRR) for patients with PC. All patients reporting here underwent genetic testing and responded to a standardized, validated survey about their PC symptoms. We report results from 89 patients with KRT6A mutations and 68 patients with KRT16 mutations.ResultsPatients with PC who have KRT6A and KRT16 mutations display distinct phenotypic differences. Patients with PC-K6a experience earlier onset, more extensive nail disease and more substantial disease outside palms and soles, as they reported a higher prevalence of oral leucokeratosis (P < 0·001), cysts (P < 0·001) and follicular hyperkeratosis (P < 0·001) compared with their PC-K16 counterparts.ConclusionPhenotypic differences between patients with KRT6A and KRT16 mutations support adoption of a new classification system based on the mutant gene (PC-6a, PC-16) rather than the PC-1 nomenclature.© 2011 The Authors. BJD © 2011 British Association of Dermatologists.

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