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
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000500723
Resumo: Abstract: 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 Vohwinkel syndrome: ichthyosiform variant in a familyGenetic diseases, inbornIchthyosisKeratinocytesKeratoderma, palmoplantarSkin diseases, geneticAbstract: 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.Sociedade Brasileira de Dermatologia2018-10-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000500723Anais Brasileiros de Dermatologia v.93 n.5 2018reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20187440info:eu-repo/semantics/openAccessReinehr,Clarissa Prieto HermanPeruzzo,JulianoCestari,Taniaeng2018-08-22T00:00:00Zoai:scielo:S0365-05962018000500723Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2018-08-22T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.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
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
author_role author
author2 Peruzzo,Juliano
Cestari,Tania
author2_role author
author
dc.contributor.author.fl_str_mv Reinehr,Clarissa Prieto Herman
Peruzzo,Juliano
Cestari,Tania
dc.subject.por.fl_str_mv Genetic diseases, inborn
Ichthyosis
Keratinocytes
Keratoderma, palmoplantar
Skin diseases, genetic
topic Genetic diseases, inborn
Ichthyosis
Keratinocytes
Keratoderma, palmoplantar
Skin diseases, genetic
description Abstract: 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.none.fl_str_mv 2018-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000500723
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000500723
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20187440
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
dc.source.none.fl_str_mv Anais Brasileiros de Dermatologia v.93 n.5 2018
reponame:Anais brasileiros de dermatologia (Online)
instname:Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
instname_str Sociedade Brasileira de Dermatologia (SBD)
instacron_str SBD
institution SBD
reponame_str Anais brasileiros de dermatologia (Online)
collection Anais brasileiros de dermatologia (Online)
repository.name.fl_str_mv Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)
repository.mail.fl_str_mv abd@sbd.org.br||revista@sbd.org.br
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