Pseudoxanthoma elasticum: report of two cases

Detalhes bibliográficos
Autor(a) principal: Marques,Gabriela Franco
Data de Publicação: 2014
Outros Autores: Nakandakari,Sadamitsu, Coelho,Ana Paula Cota Pinto, Nigro,Maria Helena Mazzi Freire, Sabage,Josmar
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=S0365-05962014000500812
Resumo: Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.
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spelling Pseudoxanthoma elasticum: report of two casesConnective tissueElastic tissuePseudoxanthoma elasticumPseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.Sociedade Brasileira de Dermatologia2014-10-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000500812Anais Brasileiros de Dermatologia v.89 n.5 2014reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20143144info:eu-repo/semantics/openAccessMarques,Gabriela FrancoNakandakari,SadamitsuCoelho,Ana Paula Cota PintoNigro,Maria Helena Mazzi FreireSabage,Josmareng2014-09-16T00:00:00Zoai:scielo:S0365-05962014000500812Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2014-09-16T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Pseudoxanthoma elasticum: report of two cases
title Pseudoxanthoma elasticum: report of two cases
spellingShingle Pseudoxanthoma elasticum: report of two cases
Marques,Gabriela Franco
Connective tissue
Elastic tissue
Pseudoxanthoma elasticum
title_short Pseudoxanthoma elasticum: report of two cases
title_full Pseudoxanthoma elasticum: report of two cases
title_fullStr Pseudoxanthoma elasticum: report of two cases
title_full_unstemmed Pseudoxanthoma elasticum: report of two cases
title_sort Pseudoxanthoma elasticum: report of two cases
author Marques,Gabriela Franco
author_facet Marques,Gabriela Franco
Nakandakari,Sadamitsu
Coelho,Ana Paula Cota Pinto
Nigro,Maria Helena Mazzi Freire
Sabage,Josmar
author_role author
author2 Nakandakari,Sadamitsu
Coelho,Ana Paula Cota Pinto
Nigro,Maria Helena Mazzi Freire
Sabage,Josmar
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Marques,Gabriela Franco
Nakandakari,Sadamitsu
Coelho,Ana Paula Cota Pinto
Nigro,Maria Helena Mazzi Freire
Sabage,Josmar
dc.subject.por.fl_str_mv Connective tissue
Elastic tissue
Pseudoxanthoma elasticum
topic Connective tissue
Elastic tissue
Pseudoxanthoma elasticum
description Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.
publishDate 2014
dc.date.none.fl_str_mv 2014-10-01
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=S0365-05962014000500812
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000500812
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20143144
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.89 n.5 2014
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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