Dyskeratosis Congenita and Short Telomeres in a Female Patient
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | |
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=S2182-23952020000400055 |
Resumo: | ABSTRACT Dyskeratosis congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease causing its early shortening of the telomeres. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals. It is more common in males, with an approximate ratio of 3.2:1. The main early clinical features are a characteristic cutaneous dyspigmentation, nail dystrophy and abnormalities in the oropharynx, usually occurring between five and twelve years of age. Bone marrow failure (BMF) is the leading cause of death but there are other systemic complications. We present a case report of a two-years-old female child, who presented the cardinal mucocutaneous signs and symptoms of DC at an early age, and we emphasize the importance of a multidisciplinary patient monitoring. |
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Dyskeratosis Congenita and Short Telomeres in a Female PatientDyskeratosis CongenitaTelomere.ABSTRACT Dyskeratosis congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease causing its early shortening of the telomeres. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals. It is more common in males, with an approximate ratio of 3.2:1. The main early clinical features are a characteristic cutaneous dyspigmentation, nail dystrophy and abnormalities in the oropharynx, usually occurring between five and twelve years of age. Bone marrow failure (BMF) is the leading cause of death but there are other systemic complications. We present a case report of a two-years-old female child, who presented the cardinal mucocutaneous signs and symptoms of DC at an early age, and we emphasize the importance of a multidisciplinary patient monitoring.Sociedade Portuguesa de Dermatologia e Venereologia2020-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952020000400055Revista da Sociedade Portuguesa de Dermatologia e Venereologia v.78 n.4 2020reponame: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=S2182-23952020000400055Zanuncio,Virgínia VinhaRocha,Kelvin Oliveirainfo:eu-repo/semantics/openAccess2024-02-06T17:26:28Zoai:scielo:S2182-23952020000400055Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:31:35.948711Repositório 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 |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
title |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
spellingShingle |
Dyskeratosis Congenita and Short Telomeres in a Female Patient Zanuncio,Virgínia Vinha Dyskeratosis Congenita Telomere. |
title_short |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
title_full |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
title_fullStr |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
title_full_unstemmed |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
title_sort |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
author |
Zanuncio,Virgínia Vinha |
author_facet |
Zanuncio,Virgínia Vinha Rocha,Kelvin Oliveira |
author_role |
author |
author2 |
Rocha,Kelvin Oliveira |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Zanuncio,Virgínia Vinha Rocha,Kelvin Oliveira |
dc.subject.por.fl_str_mv |
Dyskeratosis Congenita Telomere. |
topic |
Dyskeratosis Congenita Telomere. |
description |
ABSTRACT Dyskeratosis congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease causing its early shortening of the telomeres. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals. It is more common in males, with an approximate ratio of 3.2:1. The main early clinical features are a characteristic cutaneous dyspigmentation, nail dystrophy and abnormalities in the oropharynx, usually occurring between five and twelve years of age. Bone marrow failure (BMF) is the leading cause of death but there are other systemic complications. We present a case report of a two-years-old female child, who presented the cardinal mucocutaneous signs and symptoms of DC at an early age, and we emphasize the importance of a multidisciplinary patient monitoring. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-01 |
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=S2182-23952020000400055 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952020000400055 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2182-23952020000400055 |
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 Portuguesa de Dermatologia e Venereologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
dc.source.none.fl_str_mv |
Revista da Sociedade Portuguesa de Dermatologia e Venereologia v.78 n.4 2020 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 |
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1799137376941899776 |