title: Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome.
abstract: Vohwinkel's syndrome (VS) is a rare, dominantly inherited keratoderma with pseudoainhum. Recently, a mutation in loricrin gene has been reported in two VS families of British extraction. In the present study, we examined the loricrin gene mutation in a Japanese VS patient. The patient was a 20-year-old woman. She had palmoplantar keratoderma, constricting bands encircling all the fingers, fifth toes, wrist, and neck. She also had generalized mild ichthyosis and suffered from acoustic impairment. Her parents and a brother showed no skin abnormality. Histopathology of the patient revealed hyperkeratosis with parakeratosis, together with hypergranulosis. The clinical and histopathological findings were consistent with an ichthyotic (or Camisa) variant of VS. The sequence analysis of the loricrin gene revealed that the patient had a heterozygous mutation identical to that described in previous reports, i.e. a G insertion producing a frameshift at codon 231 with an abnormal C-terminus. These results clearly demonstrate that a common loricrin gene mutation underlies VS in different ethnic groups.
authors.affiliation: Department of Dermatology, Asahikawa Medical College, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: A
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: A
authors.initials: A
authors.lastname: Kishi
authors.forename: K
authors.initials: K
authors.lastname: Ohara
authors.forename: H
authors.initials: H
authors.lastname: Iizuka
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007564:Japan; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D016254:Mutagenesis, Insertional; D010375:Pedigree; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C064554:loricrin