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Case Reports
. 2013 Nov-Dec;88(6 Suppl 1):206-8.
doi: 10.1590/abd1806-4841.20132135.

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

Liliam Dalla Corte  1 , Mariana Vale Scribel da Silva  1 , Carina Flores de Oliveira  1 , Gerson Vetoratto  1 , Raquel Bissacotti Steglich  2 , Josiane Borges  2
Affiliations
Case Reports

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

Liliam Dalla Corte et al. An Bras Dermatol. 2013 Nov-Dec.

Abstract
in English, Portuguese

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.

A síndrome de Vohwinkel ou queratodermia hereditária mutilante é uma queratose palmo-plantar rara, autossômica dominante, que se manifesta em crianças e se torna mais evidente na vida adulta. Seu modo de herança é autossômica dominante com mutação na loricrina e no gen da Conexina 26. Os pacientes com esta mutação apresentam hiperqueratose das palmas das mãos e plantas dos pés, com bandas constritivas dos dígitos, normalmente no quinto dedo e hiperqueratose em forma de estrela do mar nas regiões dorsais das mãos e dos pés. A doença ocorre principalmente em mulheres brancas, onde as bandas constritivas fibrosas aparecerem nos dígitos e podem levar ao estrangulamento progressivo e auto-amputação (pseudo-ainhum).Os autores relatam o caso de uma variante ictiosiforme da síndrome de Vohwinkel.

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Conflict of interest statement

Conflict of interest: None

Figures

FIGURE 1
FIGURE 1
Transgredient palmoplantar hyperkeratosis
FIGURE 2
FIGURE 2
Transgredient plantar hyperkeratosis
FIGURE 3
FIGURE 3
constrictive bands on the fifth toe (pseudo-ainhum)
FIGURE 4
FIGURE 4
Anatomopathological examination of the palmar region: Hyperkeratosis with orthokeratosis and parakeratosis
See this image and copyright information in PMC

References

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