Dyskeratosis Congenita and Short Telomeres in a Female Patient
| Autor: | Virgínia Vinha Zanuncio, Kelvin Oliveira Rocha |
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| Jazyk: | English<br />Portuguese |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 78, Iss 4 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2182-2395 2182-2409 |
| DOI: | 10.29021/spdv.78.4.1230 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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