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Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal teeth. PC results from dominant mutations in one of five genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) encoding keratin proteins. To delineate the clinical and genetic features of PC in a series of Israeli patients. We used direct sequencing of genomic DNA, and also used cDNA sequencing where applicable. We collected clinical information and molecular data in a cohort of Is
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