Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , |
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=S0365-05962018000300426 |
Resumo: | Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease. |
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Anais brasileiros de dermatologia (Online) |
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Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s roleAngiokeratomaFabry diseaseLysosomal storage diseasesAbstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease.Sociedade Brasileira de Dermatologia2018-06-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000300426Anais Brasileiros de Dermatologia v.93 n.3 2018reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20187128info:eu-repo/semantics/openAccessJesus,Patricia Moraes Resende deMartins,Ana MariaChiacchio,Nilton DiAranda,Carolina Sanchezeng2018-08-22T00:00:00Zoai:scielo:S0365-05962018000300426Revistahttp://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 |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
title |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
spellingShingle |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role Jesus,Patricia Moraes Resende de Angiokeratoma Fabry disease Lysosomal storage diseases |
title_short |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
title_full |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
title_fullStr |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
title_full_unstemmed |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
title_sort |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
author |
Jesus,Patricia Moraes Resende de |
author_facet |
Jesus,Patricia Moraes Resende de Martins,Ana Maria Chiacchio,Nilton Di Aranda,Carolina Sanchez |
author_role |
author |
author2 |
Martins,Ana Maria Chiacchio,Nilton Di Aranda,Carolina Sanchez |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Jesus,Patricia Moraes Resende de Martins,Ana Maria Chiacchio,Nilton Di Aranda,Carolina Sanchez |
dc.subject.por.fl_str_mv |
Angiokeratoma Fabry disease Lysosomal storage diseases |
topic |
Angiokeratoma Fabry disease Lysosomal storage diseases |
description |
Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-06-01 |
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=S0365-05962018000300426 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000300426 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/abd1806-4841.20187128 |
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.3 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 |
_version_ |
1752126422929899520 |