A missense mutation in exon 1 of the keratin 9 gene in a Japanese patient with “Vörner type” hereditary palmoplantar keratoderma

Auteur(s) : Jun-Ichi Sakabe, Motonobu Nakamura, Yoshiki Tokura Department of Dermatology, University of Occupational and Environmental Health (UOEH), 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan Epidermolytic hereditary palmoplantar keratoderma (EHPPK; OMIM: 144200) or Vorner type PPK is characterized by hyperkeratotic lesions confined to the palms and soles, histological granular degeneration and mutations in keratin 9 gene (KRT9; NCBI: NM000226) [1-5]. Here, [...]