Vohwinkel syndrome : ichthyosiform variant in a family

Detalhes bibliográficos
Autor(a) principal: Reinehr, Clarissa Prieto Herman
Data de Publicação: 2018
Outros Autores: Peruzzo, Juliano, Cestari, Tania Ferreira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/200345
Resumo: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.
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spelling Reinehr, Clarissa Prieto HermanPeruzzo, JulianoCestari, Tania Ferreira2019-10-10T03:49:31Z20180365-0596http://hdl.handle.net/10183/200345001102504Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.application/pdfengAnais brasileiros de dermatologia. Vol. 93, no. 5 (2018), p. 723-725IctioseDermatopatias genéticasCeratodermia palmar e plantarDoenças genéticas inatasCriançaRelatos de casosGenetic diseases, inbornIchthyosisKeratinocytesKeratoderma, palmoplantarSkin diseases, geneticVohwinkel syndrome : ichthyosiform variant in a familyinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001102504.pdf.txt001102504.pdf.txtExtracted Texttext/plain8028http://www.lume.ufrgs.br/bitstream/10183/200345/2/001102504.pdf.txtf80dc0517ad5c9b82d1920a078535719MD52ORIGINAL001102504.pdfTexto completo (inglês)application/pdf1080038http://www.lume.ufrgs.br/bitstream/10183/200345/1/001102504.pdf33f6b23433ef534537d24cef979a12e6MD5110183/2003452019-10-11 03:54:37.499658oai:www.lume.ufrgs.br:10183/200345Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2019-10-11T06:54:37Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Vohwinkel syndrome : ichthyosiform variant in a family
title Vohwinkel syndrome : ichthyosiform variant in a family
spellingShingle Vohwinkel syndrome : ichthyosiform variant in a family
Reinehr, Clarissa Prieto Herman
Ictiose
Dermatopatias genéticas
Ceratodermia palmar e plantar
Doenças genéticas inatas
Criança
Relatos de casos
Genetic diseases, inborn
Ichthyosis
Keratinocytes
Keratoderma, palmoplantar
Skin diseases, genetic
title_short Vohwinkel syndrome : ichthyosiform variant in a family
title_full Vohwinkel syndrome : ichthyosiform variant in a family
title_fullStr Vohwinkel syndrome : ichthyosiform variant in a family
title_full_unstemmed Vohwinkel syndrome : ichthyosiform variant in a family
title_sort Vohwinkel syndrome : ichthyosiform variant in a family
author Reinehr, Clarissa Prieto Herman
author_facet Reinehr, Clarissa Prieto Herman
Peruzzo, Juliano
Cestari, Tania Ferreira
author_role author
author2 Peruzzo, Juliano
Cestari, Tania Ferreira
author2_role author
author
dc.contributor.author.fl_str_mv Reinehr, Clarissa Prieto Herman
Peruzzo, Juliano
Cestari, Tania Ferreira
dc.subject.por.fl_str_mv Ictiose
Dermatopatias genéticas
Ceratodermia palmar e plantar
Doenças genéticas inatas
Criança
Relatos de casos
topic Ictiose
Dermatopatias genéticas
Ceratodermia palmar e plantar
Doenças genéticas inatas
Criança
Relatos de casos
Genetic diseases, inborn
Ichthyosis
Keratinocytes
Keratoderma, palmoplantar
Skin diseases, genetic
dc.subject.eng.fl_str_mv Genetic diseases, inborn
Ichthyosis
Keratinocytes
Keratoderma, palmoplantar
Skin diseases, genetic
description Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.
publishDate 2018
dc.date.issued.fl_str_mv 2018
dc.date.accessioned.fl_str_mv 2019-10-10T03:49:31Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/200345
dc.identifier.issn.pt_BR.fl_str_mv 0365-0596
dc.identifier.nrb.pt_BR.fl_str_mv 001102504
identifier_str_mv 0365-0596
001102504
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.pt_BR.fl_str_mv Anais brasileiros de dermatologia. Vol. 93, no. 5 (2018), p. 723-725
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