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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.

SUBMITTER: Corte LD

PROVIDER: S-EPMC3875996 | biostudies-literature | 2013 Nov-Dec

REPOSITORIES: biostudies-literature

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Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.

Corte Liliam Dalla LD Silva Mariana Vale Scribel da MV Oliveira Carina Flores de CF Vetoratto Gerson G Steglich Raquel Bissacotti RB Borges Josiane J

Anais brasileiros de dermatologia 20131101 6 Suppl 1

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 o ...[more]

PMID: 24346921

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