Alkaptonuria - Case report
Autor(a) principal: | |
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Data de Publicação: | 2014 |
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=S0365-05962014000500799 |
Resumo: | Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods. |
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Alkaptonuria - Case reportAlkaptonuriaHomogentisic acidOchronosisAlkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.Sociedade Brasileira de Dermatologia2014-10-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000500799Anais Brasileiros de Dermatologia v.89 n.5 2014reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20143052info:eu-repo/semantics/openAccessCraide,Fernanda HelenaFonseca,Juliana Salvini Barbosa Martins daMariano,Priscila CoelhoFernandez,Natalia MonteiroCastro,Carlos Gustavo Carneiro deMene,Yuri de Souza Limaeng2014-09-16T00:00:00Zoai:scielo:S0365-05962014000500799Revistahttp://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 |
Alkaptonuria - Case report |
title |
Alkaptonuria - Case report |
spellingShingle |
Alkaptonuria - Case report Craide,Fernanda Helena Alkaptonuria Homogentisic acid Ochronosis |
title_short |
Alkaptonuria - Case report |
title_full |
Alkaptonuria - Case report |
title_fullStr |
Alkaptonuria - Case report |
title_full_unstemmed |
Alkaptonuria - Case report |
title_sort |
Alkaptonuria - Case report |
author |
Craide,Fernanda Helena |
author_facet |
Craide,Fernanda Helena Fonseca,Juliana Salvini Barbosa Martins da Mariano,Priscila Coelho Fernandez,Natalia Monteiro Castro,Carlos Gustavo Carneiro de Mene,Yuri de Souza Lima |
author_role |
author |
author2 |
Fonseca,Juliana Salvini Barbosa Martins da Mariano,Priscila Coelho Fernandez,Natalia Monteiro Castro,Carlos Gustavo Carneiro de Mene,Yuri de Souza Lima |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Craide,Fernanda Helena Fonseca,Juliana Salvini Barbosa Martins da Mariano,Priscila Coelho Fernandez,Natalia Monteiro Castro,Carlos Gustavo Carneiro de Mene,Yuri de Souza Lima |
dc.subject.por.fl_str_mv |
Alkaptonuria Homogentisic acid Ochronosis |
topic |
Alkaptonuria Homogentisic acid Ochronosis |
description |
Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods. |
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=S0365-05962014000500799 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962014000500799 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/abd1806-4841.20143052 |
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 |
_version_ |
1752126419878543360 |