Reed's Syndrome

Detalhes bibliográficos
Autor(a) principal: Almeida, FT
Data de Publicação: 2018
Outros Autores: Santos, R P, Carvalho, SD, Brito, C
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.23/1265
Resumo: Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.
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spelling Reed's SyndromeLeiomiomatoseSíndromes Neoplásicas HereditáriasNeoplasias da PeleNeoplasias UterinasMultiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.Repositório Científico do Hospital de BragaAlmeida, FTSantos, R PCarvalho, SDBrito, C2018-07-06T10:45:14Z2018-01-01T00:00:00Z2018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.23/1265engIndian J Dermatol. 2018 May-Jun;63(3):261-263.10.4103/ijd.IJD_69_18info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T09:03:10Zoai:repositorio.hospitaldebraga.pt:10400.23/1265Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:55:48.020246Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Reed's Syndrome
title Reed's Syndrome
spellingShingle Reed's Syndrome
Almeida, FT
Leiomiomatose
Síndromes Neoplásicas Hereditárias
Neoplasias da Pele
Neoplasias Uterinas
title_short Reed's Syndrome
title_full Reed's Syndrome
title_fullStr Reed's Syndrome
title_full_unstemmed Reed's Syndrome
title_sort Reed's Syndrome
author Almeida, FT
author_facet Almeida, FT
Santos, R P
Carvalho, SD
Brito, C
author_role author
author2 Santos, R P
Carvalho, SD
Brito, C
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Hospital de Braga
dc.contributor.author.fl_str_mv Almeida, FT
Santos, R P
Carvalho, SD
Brito, C
dc.subject.por.fl_str_mv Leiomiomatose
Síndromes Neoplásicas Hereditárias
Neoplasias da Pele
Neoplasias Uterinas
topic Leiomiomatose
Síndromes Neoplásicas Hereditárias
Neoplasias da Pele
Neoplasias Uterinas
description Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.
publishDate 2018
dc.date.none.fl_str_mv 2018-07-06T10:45:14Z
2018-01-01T00:00:00Z
2018-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.23/1265
url http://hdl.handle.net/10400.23/1265
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Indian J Dermatol. 2018 May-Jun;63(3):261-263.
10.4103/ijd.IJD_69_18
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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