Cutaneous leiomyomatosis in a mother and daughter

Detalhes bibliográficos
Autor(a) principal: Lencastre,André
Data de Publicação: 2013
Outros Autores: Cabete,Joana, Gonçalves,Rui, João,Alexandre, Fidalgo,Ana
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=S0365-05962013000800124
Resumo: A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.
id SBD-1_4418fabede989e179c007fe57a14911f
oai_identifier_str oai:scielo:S0365-05962013000800124
network_acronym_str SBD-1
network_name_str Anais brasileiros de dermatologia (Online)
repository_id_str
spelling Cutaneous leiomyomatosis in a mother and daughterCarcinoma, renal cellFumarate hydrataseLeiomyomaLeiomyomatosisA 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.Sociedade Brasileira de Dermatologia2013-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800124Anais Brasileiros de Dermatologia v.88 n.6 suppl.1 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132449info:eu-repo/semantics/openAccessLencastre,AndréCabete,JoanaGonçalves,RuiJoão,AlexandreFidalgo,Anaeng2014-06-16T00:00:00Zoai:scielo:S0365-05962013000800124Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2014-06-16T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Cutaneous leiomyomatosis in a mother and daughter
title Cutaneous leiomyomatosis in a mother and daughter
spellingShingle Cutaneous leiomyomatosis in a mother and daughter
Lencastre,André
Carcinoma, renal cell
Fumarate hydratase
Leiomyoma
Leiomyomatosis
title_short Cutaneous leiomyomatosis in a mother and daughter
title_full Cutaneous leiomyomatosis in a mother and daughter
title_fullStr Cutaneous leiomyomatosis in a mother and daughter
title_full_unstemmed Cutaneous leiomyomatosis in a mother and daughter
title_sort Cutaneous leiomyomatosis in a mother and daughter
author Lencastre,André
author_facet Lencastre,André
Cabete,Joana
Gonçalves,Rui
João,Alexandre
Fidalgo,Ana
author_role author
author2 Cabete,Joana
Gonçalves,Rui
João,Alexandre
Fidalgo,Ana
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Lencastre,André
Cabete,Joana
Gonçalves,Rui
João,Alexandre
Fidalgo,Ana
dc.subject.por.fl_str_mv Carcinoma, renal cell
Fumarate hydratase
Leiomyoma
Leiomyomatosis
topic Carcinoma, renal cell
Fumarate hydratase
Leiomyoma
Leiomyomatosis
description A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.
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=S0365-05962013000800124
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800124
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20132449
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 suppl.1 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_ 1752126419386761216

Registros relacionados