Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Detalhes bibliográficos
Autor(a) principal: Gouveia,Miguel Pinto de
Data de Publicação: 2016
Outros Autores: Coutinho,Inês, Teixeira,Vera, d'Oliveira,Renata, Venâncio,Margarida, Moreno,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=S0365-05962016000600837
Resumo: Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.
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spelling Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicismHyperpigmentationHypopigmentationMosaicismTrisomyAbstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.Sociedade Brasileira de Dermatologia2016-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000600837Anais Brasileiros de Dermatologia v.91 n.6 2016reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20164922info:eu-repo/semantics/openAccessGouveia,Miguel Pinto deCoutinho,InêsTeixeira,Verad'Oliveira,RenataVenâncio,MargaridaMoreno,Anaeng2017-01-06T00:00:00Zoai:scielo:S0365-05962016000600837Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2017-01-06T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
title Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
spellingShingle Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
Gouveia,Miguel Pinto de
Hyperpigmentation
Hypopigmentation
Mosaicism
Trisomy
title_short Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
title_full Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
title_fullStr Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
title_full_unstemmed Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
title_sort Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
author Gouveia,Miguel Pinto de
author_facet Gouveia,Miguel Pinto de
Coutinho,Inês
Teixeira,Vera
d'Oliveira,Renata
Venâncio,Margarida
Moreno,Ana
author_role author
author2 Coutinho,Inês
Teixeira,Vera
d'Oliveira,Renata
Venâncio,Margarida
Moreno,Ana
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Gouveia,Miguel Pinto de
Coutinho,Inês
Teixeira,Vera
d'Oliveira,Renata
Venâncio,Margarida
Moreno,Ana
dc.subject.por.fl_str_mv Hyperpigmentation
Hypopigmentation
Mosaicism
Trisomy
topic Hyperpigmentation
Hypopigmentation
Mosaicism
Trisomy
description Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.
publishDate 2016
dc.date.none.fl_str_mv 2016-12-01
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=S0365-05962016000600837
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000600837
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/abd1806-4841.20164922
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.91 n.6 2016
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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