Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,

Detalhes bibliográficos
Autor(a) principal: Bueno,Ana Laura Andrade
Data de Publicação: 2020
Outros Autores: de Souza,Maria Emilia Vieira, Graziadio,Carla, Kiszewski,Ana Elisa
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=S0365-05962020000500619
Resumo: Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.
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spelling Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,PilomatrixomaPilomatricomaRubinstein-Taybi syndromeTumor of the skin appendagesAbstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.Sociedade Brasileira de Dermatologia2020-10-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962020000500619Anais Brasileiros de Dermatologia v.95 n.5 2020reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1016/j.abd.2020.03.011info:eu-repo/semantics/openAccessBueno,Ana Laura Andradede Souza,Maria Emilia VieiraGraziadio,CarlaKiszewski,Ana Elisaeng2020-11-12T00:00:00Zoai:scielo:S0365-05962020000500619Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2020-11-12T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
title Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
spellingShingle Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
Bueno,Ana Laura Andrade
Pilomatrixoma
Pilomatricoma
Rubinstein-Taybi syndrome
Tumor of the skin appendages
title_short Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
title_full Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
title_fullStr Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
title_full_unstemmed Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
title_sort Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome,
author Bueno,Ana Laura Andrade
author_facet Bueno,Ana Laura Andrade
de Souza,Maria Emilia Vieira
Graziadio,Carla
Kiszewski,Ana Elisa
author_role author
author2 de Souza,Maria Emilia Vieira
Graziadio,Carla
Kiszewski,Ana Elisa
author2_role author
author
author
dc.contributor.author.fl_str_mv Bueno,Ana Laura Andrade
de Souza,Maria Emilia Vieira
Graziadio,Carla
Kiszewski,Ana Elisa
dc.subject.por.fl_str_mv Pilomatrixoma
Pilomatricoma
Rubinstein-Taybi syndrome
Tumor of the skin appendages
topic Pilomatrixoma
Pilomatricoma
Rubinstein-Taybi syndrome
Tumor of the skin appendages
description Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.
publishDate 2020
dc.date.none.fl_str_mv 2020-10-01
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=S0365-05962020000500619
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962020000500619
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.abd.2020.03.011
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.95 n.5 2020
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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