title: A new variant of Vohwinkel syndrome: a case report.
abstract: Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.
authors.affiliation: Department of Dermatology, Razi skin hospital, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Seirafi
authors.forename: Somayeh
authors.initials: S
authors.lastname: Khezri
authors.forename: Saeid
authors.initials: S
authors.lastname: Morowati
authors.forename: Kambiz
authors.initials: K
authors.lastname: Kamyabhesari
authors.forename: Mehdi
authors.initials: M
authors.lastname: Mirzaeipour
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Khezri
mesh_terms: D000015:Abnormalities, Multiple / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D000287:Administration, Topical; D000328:Adult; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006228:Hand Deformities, Congenital / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D007641:Keratolytic Agents / Q000008:administration & dosage; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D007641:Keratolytic Agents; D008565:Membrane Proteins; C064554:loricrin