Ceratodermia mutilante de Vohwinkel: relato de três casos em uma família

Abstract

A ceratodermia hereditária mutilante ou síndrome de Vohwinkel é afecção dermatológica rara caracterizada pelo espessamento cutâneo das palmas, plantas e dorso de mãos e pés, e por constrições em faixa dos dedos (pseudoainhum). São relatados três casos em uma família, envolvendo duas gerações. Em todos havia, adicionalmente, perda auditiva neurossensorial. Discutem-se o diagnóstico diferencial com outras ceratodermias palmoplantares e o tratamento com retinóides. Trata-se da primeira descrição dessa entidade no Brasil.

Você conhece esta síndrome?

“…6,7 Differential diagnosis should include the transgressive forms of palmoplantar keratoderma such as the KID (keratitis, ichthyosis, deafness) syndrome and the Vohwinkel, Olmsted and Meleda syndromes, as well as the generalized forms of ichthyosis congenita and the erythrokeratodermas. The most important differential diagnosis is with the Vohwinkel syndrome, 8 since, as in the KLICK syndrome, it also presents with linear hyperkeratotic lesions and a tendency to form constriction bands. The striated lesions in the flexural folds, the histopathological findings of hypergranulosis with abnormal keratohyalin granules, the absence of a honeycomb pattern of keratoderma and the autosome recessive inheritance pattern help differentiate the KLICK syndrome from Vohwinkel syndrome.…”

“…From the cytogenetic point of view, the absence of mutations in the genes that codify loricrin and connexin supports the hypothesis that the KLICK syndrome is a different disorder from the Vohwinkel syndrome (mutilating palmoplantar keratoderma), KID syndrome and erythrokeratodermas. 8 Treatment consists of the use of keratolytics and oral retinoids such as acitretin, and results in a significant improvement in the patient's condition; however, recurrence occurs once treatment is suspended. 2,3,5 In the patient in question a significant improvement was achieved in his skin condition with low doses of acitretin.…”

Mal de Meleda: relato de 2 casos de ocorrência familiar

“…The first epidemiological study was carried out by Kogoj. [6][7][8] The autosomal recessive inheritance of the disease was described in 1938, and in 1998 mutations were identified in the ARS B gene on chromosome 8q24.3, which codes for SLURP-1 (the secreted Ly-6/uPAR protein related to mammals). 1,[9][10][11] SLURP1 is a late marker of epidermal differentiation, and there is a correlation between its location in the stratum granulosum and the a-7 acetylcholine nicotinic receptor.…”

“…15 Richner-Hanhart syndrome is characterized by keratodermia, mental retardation and elevated tyrosine and tyrosine metabolite levels. 6 A mutation in the first extracellular domain of connexin 26 causes Vohwinkel's syndrome, an autosomal dominant condition characterized by mutilating palmoplantar keratodermia, which can progress to spontaneous amputation, alopecia, ichthyosis and deafness. 6 Unna-Thost syndrome is characterized by diffuse non-transgressive palmoplantar keratodermia with an autosomal dominant inheritance pattern and a mutation in the keratin 9 gene.…”

“…6 A mutation in the first extracellular domain of connexin 26 causes Vohwinkel's syndrome, an autosomal dominant condition characterized by mutilating palmoplantar keratodermia, which can progress to spontaneous amputation, alopecia, ichthyosis and deafness. 6 Unna-Thost syndrome is characterized by diffuse non-transgressive palmoplantar keratodermia with an autosomal dominant inheritance pattern and a mutation in the keratin 9 gene. 8 Naxos disease is an autosomal dominant condition caused by a deletion in the plakoglobin gene on chromosome 17q21, which presents with non-transgressive keratodermia in association with arrhythmogenic right ventricular cardiomyopathy and woolly hair.…”