Dyskeratosis Congenita and Short Telomeres in a Female Patient

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

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.