Dermatology clinical case

Detalhes bibliográficos
Autor(a) principal: Leitão,Cátia Vilas Boas
Data de Publicação: 2021
Outros Autores: Pereira,Isabel Ayres, Tenente,Joana, Real,Marta Vila, Oliveira,Ana, Leite,Ana Luísa
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100061
Resumo: Abstract Incontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.
id RCAP_c2df21cd8c340162c1d8532871b72173
oai_identifier_str oai:scielo:S0872-07542021000100061
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Dermatology clinical caseBlaschko linesgenodermatosesincontinentia pigmentirare diseaseAbstract Incontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.Centro Hospitalar do Porto2021-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100061Nascer e Crescer v.30 n.1 2021reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100061Leitão,Cátia Vilas BoasPereira,Isabel AyresTenente,JoanaReal,Marta VilaOliveira,AnaLeite,Ana Luísainfo:eu-repo/semantics/openAccess2024-02-06T17:06:29Zoai:scielo:S0872-07542021000100061Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:49.449436Repositório 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 Dermatology clinical case
title Dermatology clinical case
spellingShingle Dermatology clinical case
Leitão,Cátia Vilas Boas
Blaschko lines
genodermatoses
incontinentia pigmenti
rare disease
title_short Dermatology clinical case
title_full Dermatology clinical case
title_fullStr Dermatology clinical case
title_full_unstemmed Dermatology clinical case
title_sort Dermatology clinical case
author Leitão,Cátia Vilas Boas
author_facet Leitão,Cátia Vilas Boas
Pereira,Isabel Ayres
Tenente,Joana
Real,Marta Vila
Oliveira,Ana
Leite,Ana Luísa
author_role author
author2 Pereira,Isabel Ayres
Tenente,Joana
Real,Marta Vila
Oliveira,Ana
Leite,Ana Luísa
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Leitão,Cátia Vilas Boas
Pereira,Isabel Ayres
Tenente,Joana
Real,Marta Vila
Oliveira,Ana
Leite,Ana Luísa
dc.subject.por.fl_str_mv Blaschko lines
genodermatoses
incontinentia pigmenti
rare disease
topic Blaschko lines
genodermatoses
incontinentia pigmenti
rare disease
description Abstract Incontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.
publishDate 2021
dc.date.none.fl_str_mv 2021-03-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100061
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100061
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100061
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 Centro Hospitalar do Porto
publisher.none.fl_str_mv Centro Hospitalar do Porto
dc.source.none.fl_str_mv Nascer e Crescer v.30 n.1 2021
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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
repository.mail.fl_str_mv
_version_ 1799137288296333312

Registros relacionados