Abstract

ZANUNCIO, Virgínia Vinha  and  ROCHA, Kelvin Oliveira. Dyskeratosis Congenita and Short Telomeres in a Female Patient. Rev Soc Port Dermatol Venereol [online]. 2020, vol.78, n.4, pp.55-58.  Epub Sep 10, 2021. ISSN 2182-2395.  https://doi.org/10.29021/spdv.78.4.1230.

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.

Keywords : Dyskeratosis Congenita; Telomere..

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