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: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.29021/spdv.78.4.1230 |
Resumo: | Dyskeratosis Congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease associated with maintenance of defects and early telomere shortening. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals, and is more common in males than females, with an approximate ratio of 10:1. The main initial clinical manifestations are disorders of cutaneous pigmentation, 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 related to this disease. We present a case report of a child, female, two years old, who presented the cardinal signs and symptoms of DC at an early age, and we emphasize the importance of multidisciplinary monitoring of the patient. |
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Dyskeratosis Congenita and Short Telomeres in a Female PatientDisqueratose Congénita com Telómeros Curtos numa Doente do Sexo FemininoDyskeratosis CongenitaTelomereDisqueratose CongénitaTelómerosDyskeratosis Congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease associated with maintenance of defects and early telomere shortening. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals, and is more common in males than females, with an approximate ratio of 10:1. The main initial clinical manifestations are disorders of cutaneous pigmentation, 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 related to this disease. We present a case report of a child, female, two years old, who presented the cardinal signs and symptoms of DC at an early age, and we emphasize the importance of multidisciplinary monitoring of the patient.A Disceratose Congênita (DC) é uma síndrome hereditária e multissistêmica, com manifestações clínicas e genéticas heterogêneas, caracterizada como uma doença associada à manutenção de defeitos e encurtamento precoce dos telômeros. É uma condição rara, com incidência anual estimada de 1 em 1 milhão de indivíduos, e é mais comum em homens que em mulheres, com uma proporção aproximada de 10: 1. As principais manifestações clínicas iniciais são distúrbios da pigmentação cutânea, distrofia ungueal e anormalidades na orofaringe, ocorrendo geralmente entre cinco e doze anos de idade. A falência da medula óssea (BMF) é a principal causa de morte relacionada a esta doença. Apresentamos um relato de caso de uma criança do sexo feminino, com dois anos de idade, que apresentou sinais e sintomas cardinais de DC em tenra idade, e enfatizamos a importância do monitoramento multidisciplinar do paciente.Sociedade Portuguesa de Dermatologia e Venereologia2020-12-19T00:00:00Zjournal articleinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.29021/spdv.78.4.1230oai:ojs.revista.spdv.com.pt:article/1230Journal of the Portuguese Society of Dermatology and Venereology; Vol 78 No 4 (2020): October - December; 369-372Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 78 n. 4 (2020): Outubro - Dezembro; 369-3722182-24092182-2395reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttps://revista.spdv.com.pt/index.php/spdv/article/view/1230https://doi.org/10.29021/spdv.78.4.1230https://revista.spdv.com.pt/index.php/spdv/article/view/1230/870Copyright (c) 2020 Journal of the Portuguese Society of Dermatology and Venereologyhttps://creativecommons.org/licenses/by-nc/4.0info:eu-repo/semantics/openAccessVinha Zanuncio, VirgíniaOliveira Rocha, Kelvin2022-10-06T12:35:16Zoai:ojs.revista.spdv.com.pt:article/1230Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:11:17.108413Repositório 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 Disqueratose Congénita com Telómeros Curtos numa Doente do Sexo Feminino |
title |
Dyskeratosis Congenita and Short Telomeres in a Female Patient |
spellingShingle |
Dyskeratosis Congenita and Short Telomeres in a Female Patient Vinha Zanuncio, Virgínia Dyskeratosis Congenita Telomere Disqueratose Congénita Telómeros |
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 |
Vinha Zanuncio, Virgínia |
author_facet |
Vinha Zanuncio, Virgínia Oliveira Rocha, Kelvin |
author_role |
author |
author2 |
Oliveira Rocha, Kelvin |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Vinha Zanuncio, Virgínia Oliveira Rocha, Kelvin |
dc.subject.por.fl_str_mv |
Dyskeratosis Congenita Telomere Disqueratose Congénita Telómeros |
topic |
Dyskeratosis Congenita Telomere Disqueratose Congénita Telómeros |
description |
Dyskeratosis Congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease associated with maintenance of defects and early telomere shortening. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals, and is more common in males than females, with an approximate ratio of 10:1. The main initial clinical manifestations are disorders of cutaneous pigmentation, 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 related to this disease. We present a case report of a child, female, two years old, who presented the cardinal signs and symptoms of DC at an early age, and we emphasize the importance of multidisciplinary monitoring of the patient. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-19T00:00:00Z |
dc.type.driver.fl_str_mv |
journal article info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.29021/spdv.78.4.1230 oai:ojs.revista.spdv.com.pt:article/1230 |
url |
https://doi.org/10.29021/spdv.78.4.1230 |
identifier_str_mv |
oai:ojs.revista.spdv.com.pt:article/1230 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://revista.spdv.com.pt/index.php/spdv/article/view/1230 https://doi.org/10.29021/spdv.78.4.1230 https://revista.spdv.com.pt/index.php/spdv/article/view/1230/870 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2020 Journal of the Portuguese Society of Dermatology and Venereology https://creativecommons.org/licenses/by-nc/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2020 Journal of the Portuguese Society of Dermatology and Venereology https://creativecommons.org/licenses/by-nc/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
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 |
Journal of the Portuguese Society of Dermatology and Venereology; Vol 78 No 4 (2020): October - December; 369-372 Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 78 n. 4 (2020): Outubro - Dezembro; 369-372 2182-2409 2182-2395 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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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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