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Sir, The keratin 9 gene (KRT9) encodes the type I keratin 9, an intermediate filament protein expressed only in the terminally differentiated epidermis of the palms and soles (1). Mutations in KRT9 are a cause of epidermolytic palmoplantar keratoderma Vörner (EPPK), an autosomal dominant disease characterized by diffuse thickening of the entire palmoplantar epidermis bordered with erythematous margins (2 – 4). Most of the known EPPK mutations are located in the evolutionarily highly conserved residue of the critical aminoterminal end in the rod domain of keratin 9 (4 – 12). A large Hungarian family with EPPK confirmed by histopathological and ultrastructural studies is presented. The proband, a 22-year-old woman, showed a novel missense mutation 479ApT, N160I in the aminoterminal end of the rod domain of the KRT9, which was confirmed in the other affected members of the family.

Novel N160I Mutation of Keratin 9 in a Large Pedigree from Hungary with Epidermolytic Palmoplantar Keratoderma