Do you know this syndrome?

Detalhes bibliográficos
Autor(a) principal: Machado,Pedro Vale
Data de Publicação: 2013
Outros Autores: Daxbacher,Egon Luiz Rodrigues, Obadia,Daniel Lago, Cunha,Edna Ferreira da, Alves,Maria de Fátima Guimarães Scotelaro, Mann,Danielle
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=S0365-05962013000601011
Resumo: Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyceridemia. It is worth noting Eruptive xanthoma as a dermatological manifestation that is not generally highlighted in the reports of cases of this genetic metabolic disorder.
id SBD-1_c96ab71ae60d8f55afbf853bfd002e16
oai_identifier_str oai:scielo:S0365-05962013000601011
network_acronym_str SBD-1
network_name_str Anais brasileiros de dermatologia (Online)
repository_id_str
spelling Do you know this syndrome?Acanthosis nigricansDiabetes mellitusDyslipidemiasLipodystrophy, congenital generalizedXanthomatosisBerardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyceridemia. It is worth noting Eruptive xanthoma as a dermatological manifestation that is not generally highlighted in the reports of cases of this genetic metabolic disorder.Sociedade Brasileira de Dermatologia2013-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000601011Anais Brasileiros de Dermatologia v.88 n.6 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132178info:eu-repo/semantics/openAccessMachado,Pedro ValeDaxbacher,Egon Luiz RodriguesObadia,Daniel LagoCunha,Edna Ferreira daAlves,Maria de Fátima Guimarães ScotelaroMann,Danielleeng2014-08-29T00:00:00Zoai:scielo:S0365-05962013000601011Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2014-08-29T00:00Anais 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?
Machado,Pedro Vale
Acanthosis nigricans
Diabetes mellitus
Dyslipidemias
Lipodystrophy, congenital generalized
Xanthomatosis
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 Machado,Pedro Vale
author_facet Machado,Pedro Vale
Daxbacher,Egon Luiz Rodrigues
Obadia,Daniel Lago
Cunha,Edna Ferreira da
Alves,Maria de Fátima Guimarães Scotelaro
Mann,Danielle
author_role author
author2 Daxbacher,Egon Luiz Rodrigues
Obadia,Daniel Lago
Cunha,Edna Ferreira da
Alves,Maria de Fátima Guimarães Scotelaro
Mann,Danielle
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Machado,Pedro Vale
Daxbacher,Egon Luiz Rodrigues
Obadia,Daniel Lago
Cunha,Edna Ferreira da
Alves,Maria de Fátima Guimarães Scotelaro
Mann,Danielle
dc.subject.por.fl_str_mv Acanthosis nigricans
Diabetes mellitus
Dyslipidemias
Lipodystrophy, congenital generalized
Xanthomatosis
topic Acanthosis nigricans
Diabetes mellitus
Dyslipidemias
Lipodystrophy, congenital generalized
Xanthomatosis
description Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyceridemia. It is worth noting Eruptive xanthoma as a dermatological manifestation that is not generally highlighted in the reports of cases of this genetic metabolic disorder.
publishDate 2013
dc.date.none.fl_str_mv 2013-12-01
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=S0365-05962013000601011
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000601011
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20132178
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.6 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
_version_ 1752126419104694272

Registros relacionados