Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report
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 pre...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2013-12-01
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| Series: | Anais Brasileiros de Dermatologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800206&tlng=en |
| _version_ | 1828133411551707136 |
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| author | Liliam Dalla Corte Mariana Vale Scribel da Silva Carina Flores de Oliveira Gerson Vetoratto Raquel Bissacotti Steglich Josiane Borges |
| author_facet | Liliam Dalla Corte Mariana Vale Scribel da Silva Carina Flores de Oliveira Gerson Vetoratto Raquel Bissacotti Steglich Josiane Borges |
| author_sort | Liliam Dalla Corte |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T17:17:51Z |
| format | Article |
| id | doaj.art-44d7aed0ded54d85888bfe573afe1c3f |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-04-11T17:17:51Z |
| publishDate | 2013-12-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-44d7aed0ded54d85888bfe573afe1c3f2022-12-22T04:12:33ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962013-12-01886 suppl 120620810.1590/abd1806-4841.20132135Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case reportLiliam Dalla CorteMariana Vale Scribel da SilvaCarina Flores de OliveiraGerson VetorattoRaquel Bissacotti SteglichJosiane BorgesVohwinkel 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800206&tlng=enDyskeratosis congenitaFinger injuriesHand dermatosesIchthyosisKeratoderma, palmoplantar |
| spellingShingle | Liliam Dalla Corte Mariana Vale Scribel da Silva Carina Flores de Oliveira Gerson Vetoratto Raquel Bissacotti Steglich Josiane Borges Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report Anais Brasileiros de Dermatologia Dyskeratosis congenita Finger injuries Hand dermatoses Ichthyosis Keratoderma, palmoplantar |
| title | Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report |
| title_full | Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report |
| title_fullStr | Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report |
| title_full_unstemmed | Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report |
| title_short | Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report |
| title_sort | vohwinkel syndrome ichthyosiform variant by camisa case report |
| topic | Dyskeratosis congenita Finger injuries Hand dermatoses Ichthyosis Keratoderma, palmoplantar |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800206&tlng=en |
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