Dyskeratosis Congenita and Short Telomeres in a Female Patient

• Autor(a) principal: Zanuncio,Virgínia Vinha
• Data de Publicação: 2020
• Outros Autores: Rocha,Kelvin Oliveira
• 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
• topic: Dyskeratosis Congenita; Telomere.

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.