Birt-Hogg-Dubé syndrome
Autor(a) principal: | |
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Data de Publicação: | 2013 |
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=S0365-05962013000800203 |
Resumo: | A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling. |
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Anais brasileiros de dermatologia (Online) |
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Birt-Hogg-Dubé syndromeBirt-Hogg-Dube SyndromeFrameshift mutationHair follicleA 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and 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=S0365-05962013000800203Anais Brasileiros de Dermatologia v.88 n.6 suppl.1 2013reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20132199info:eu-repo/semantics/openAccessLencastre,AndréPonte,PedroApetato,MargaridaNunes,LuisLestre,Saraeng2014-06-16T00:00:00Zoai:scielo:S0365-05962013000800203Revistahttp://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 |
Birt-Hogg-Dubé syndrome |
title |
Birt-Hogg-Dubé syndrome |
spellingShingle |
Birt-Hogg-Dubé syndrome Lencastre,André Birt-Hogg-Dube Syndrome Frameshift mutation Hair follicle |
title_short |
Birt-Hogg-Dubé syndrome |
title_full |
Birt-Hogg-Dubé syndrome |
title_fullStr |
Birt-Hogg-Dubé syndrome |
title_full_unstemmed |
Birt-Hogg-Dubé syndrome |
title_sort |
Birt-Hogg-Dubé syndrome |
author |
Lencastre,André |
author_facet |
Lencastre,André Ponte,Pedro Apetato,Margarida Nunes,Luis Lestre,Sara |
author_role |
author |
author2 |
Ponte,Pedro Apetato,Margarida Nunes,Luis Lestre,Sara |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Lencastre,André Ponte,Pedro Apetato,Margarida Nunes,Luis Lestre,Sara |
dc.subject.por.fl_str_mv |
Birt-Hogg-Dube Syndrome Frameshift mutation Hair follicle |
topic |
Birt-Hogg-Dube Syndrome Frameshift mutation Hair follicle |
description |
A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and 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=S0365-05962013000800203 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000800203 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/abd1806-4841.20132199 |
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_ |
1752126419418218496 |