The role of immunohistochemistry in the Muir-Torre Syndrome

Detalhes bibliográficos
Autor(a) principal: Oliveira,Cláudia Marina Puga Barbosa
Data de Publicação: 2015
Outros Autores: Campos,Jullyene Gomes de, Maia,Maiko Ramacos, Lobo,Larissa Eva dos Santos, Valle,Fábio Francesconi do
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=S0365-05962015000700168
Resumo: Abstract Muir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, as it revealed nuclear negativity for MSH2 and MSH6.
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spelling The role of immunohistochemistry in the Muir-Torre SyndromeAdenomaColorectal NeoplasmsDNA RepairMuir-Torre SyndromeAbstract Muir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, as it revealed nuclear negativity for MSH2 and MSH6.Sociedade Brasileira de Dermatologia2015-06-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000700168Anais Brasileiros de Dermatologia v.90 n.3 suppl.1 2015reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20153406info:eu-repo/semantics/openAccessOliveira,Cláudia Marina Puga BarbosaCampos,Jullyene Gomes deMaia,Maiko RamacosLobo,Larissa Eva dos SantosValle,Fábio Francesconi doeng2015-11-19T00:00:00Zoai:scielo:S0365-05962015000700168Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2015-11-19T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv The role of immunohistochemistry in the Muir-Torre Syndrome
title The role of immunohistochemistry in the Muir-Torre Syndrome
spellingShingle The role of immunohistochemistry in the Muir-Torre Syndrome
Oliveira,Cláudia Marina Puga Barbosa
Adenoma
Colorectal Neoplasms
DNA Repair
Muir-Torre Syndrome
title_short The role of immunohistochemistry in the Muir-Torre Syndrome
title_full The role of immunohistochemistry in the Muir-Torre Syndrome
title_fullStr The role of immunohistochemistry in the Muir-Torre Syndrome
title_full_unstemmed The role of immunohistochemistry in the Muir-Torre Syndrome
title_sort The role of immunohistochemistry in the Muir-Torre Syndrome
author Oliveira,Cláudia Marina Puga Barbosa
author_facet Oliveira,Cláudia Marina Puga Barbosa
Campos,Jullyene Gomes de
Maia,Maiko Ramacos
Lobo,Larissa Eva dos Santos
Valle,Fábio Francesconi do
author_role author
author2 Campos,Jullyene Gomes de
Maia,Maiko Ramacos
Lobo,Larissa Eva dos Santos
Valle,Fábio Francesconi do
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Oliveira,Cláudia Marina Puga Barbosa
Campos,Jullyene Gomes de
Maia,Maiko Ramacos
Lobo,Larissa Eva dos Santos
Valle,Fábio Francesconi do
dc.subject.por.fl_str_mv Adenoma
Colorectal Neoplasms
DNA Repair
Muir-Torre Syndrome
topic Adenoma
Colorectal Neoplasms
DNA Repair
Muir-Torre Syndrome
description Abstract Muir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, as it revealed nuclear negativity for MSH2 and MSH6.
publishDate 2015
dc.date.none.fl_str_mv 2015-06-01
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=S0365-05962015000700168
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000700168
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20153406
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.90 n.3 suppl.1 2015
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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