pachyonychia congenita type 1
MIM.167200
Pachyonychia congenita type 1 is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions.
Etiology
germline mutations in the keratin 16 gene (KRT16) (MIM.148067) or in the keratin 6A gene (KRT6A) (MIM.148041)