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

Detalhes bibliográficos
Autor(a) principal: Gouveia, MP
Data de Publicação: 2016
Outros Autores: Coutinho, I, Teixeira, V, d'Oliveira, R, Venâncio, M, Moreno, A
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/2211
Resumo: 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 mosaicismCriançaHyperpigmentaçãoMosaicismoHipopigmentaçãoTrissomiaDyspigmentation 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.RIHUCGouveia, MPCoutinho, ITeixeira, Vd'Oliveira, RVenâncio, MMoreno, A2019-03-07T14:50:03Z20162016-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/2211engAn Bras Dermatol. 2016 Nov-Dec;91(6):837-839.10.1590/abd1806-4841.20164922info: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:RCAAP2023-07-11T14:23:33Zoai:rihuc.huc.min-saude.pt:10400.4/2211Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:40.569848Repositório 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 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, MP
Criança
Hyperpigmentação
Mosaicismo
Hipopigmentação
Trissomia
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, MP
author_facet Gouveia, MP
Coutinho, I
Teixeira, V
d'Oliveira, R
Venâncio, M
Moreno, A
author_role author
author2 Coutinho, I
Teixeira, V
d'Oliveira, R
Venâncio, M
Moreno, A
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Gouveia, MP
Coutinho, I
Teixeira, V
d'Oliveira, R
Venâncio, M
Moreno, A
dc.subject.por.fl_str_mv Criança
Hyperpigmentação
Mosaicismo
Hipopigmentação
Trissomia
topic Criança
Hyperpigmentação
Mosaicismo
Hipopigmentação
Trissomia
description 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
2016-01-01T00:00:00Z
2019-03-07T14:50:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/2211
url http://hdl.handle.net/10400.4/2211
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv An Bras Dermatol. 2016 Nov-Dec;91(6):837-839.
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 application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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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