title: Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.
abstract: Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ain-hum).The authors report a rare case of a patient with a clinical ichthyosiform variant of Vohwinkel syndrome.
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Dermatology Service, Porto AlegreRS, Brazil.
authors.forename: Liliam Dalla
authors.initials: LD
authors.lastname: Corte
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Dermatology Service, Porto AlegreRS, Brazil.
authors.forename: Mariana Vale Scribel da
authors.initials: MV
authors.lastname: Silva
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Dermatology Service, Porto AlegreRS, Brazil.
authors.forename: Carina Flores de
authors.initials: CF
authors.lastname: Oliveira
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Dermatology Service, Porto AlegreRS, Brazil.
authors.forename: Gerson
authors.initials: G
authors.lastname: Vetoratto
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Porto AlegreRS, Brazil.
authors.forename: Raquel Bissacotti
authors.initials: RB
authors.lastname: Steglich
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Porto AlegreRS, Brazil.
authors.forename: Josiane
authors.initials: J
authors.lastname: Borges
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology*; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation