Article
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
The British journal of dermatology - 1 Apr 2012
Spaunhurst K M, Hogendorf A M, Smith F J D, Lingala B, Schwartz M E, Cywinska-Bernas A, Zeman K J, Tang J Y
Abstract excerpt
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 KRT6A and KRT16 have been grouped to the PC-1 subtype (Jadassohn-Lewandowsky type) and KRT6B and...
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