Do you know this syndrome?

Detalhes bibliográficos
Autor(a) principal: Frainer,Renata Hubner
Data de Publicação: 2013
Outros Autores: Abreu,Luciana Boff de, Pinto,Giselle Martins, Carvalho,André Vicente Esteves de, Meneghello,Luana Pizarro
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000100135
Resumo: Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.
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spelling Do you know this syndrome?Congenital abnormalitiesHypotrichosisvision disordersCongenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.Sociedade Brasileira de Dermatologia2013-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000100135Anais Brasileiros de Dermatologia v.88 n.1 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/S0365-05962013000100023info:eu-repo/semantics/openAccessFrainer,Renata HubnerAbreu,Luciana Boff dePinto,Giselle MartinsCarvalho,André Vicente Esteves deMeneghello,Luana Pizarroeng2013-04-02T00:00:00Zoai:scielo:S0365-05962013000100135Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2013-04-02T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Do you know this syndrome?
title Do you know this syndrome?
spellingShingle Do you know this syndrome?
Frainer,Renata Hubner
Congenital abnormalities
Hypotrichosis
vision disorders
title_short Do you know this syndrome?
title_full Do you know this syndrome?
title_fullStr Do you know this syndrome?
title_full_unstemmed Do you know this syndrome?
title_sort Do you know this syndrome?
author Frainer,Renata Hubner
author_facet Frainer,Renata Hubner
Abreu,Luciana Boff de
Pinto,Giselle Martins
Carvalho,André Vicente Esteves de
Meneghello,Luana Pizarro
author_role author
author2 Abreu,Luciana Boff de
Pinto,Giselle Martins
Carvalho,André Vicente Esteves de
Meneghello,Luana Pizarro
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Frainer,Renata Hubner
Abreu,Luciana Boff de
Pinto,Giselle Martins
Carvalho,André Vicente Esteves de
Meneghello,Luana Pizarro
dc.subject.por.fl_str_mv Congenital abnormalities
Hypotrichosis
vision disorders
topic Congenital abnormalities
Hypotrichosis
vision disorders
description Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.
publishDate 2013
dc.date.none.fl_str_mv 2013-02-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000100135
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000100135
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0365-05962013000100023
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.88 n.1 2013
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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