Dyskeratosis Congenita
| Autor: | Garofola C; Lewis Gale Montgomery, Nassereddin A; WakeMed Health and Hospitals, Gross GP; Lewis Gale Hospital Montgomery |
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| Jazyk: | angličtina |
| Zdroj: | 2022 Jan. |
| Abstrakt: | Dyskeratosis congenita (DKC), which is also known as Zinsser-Engman-Cole syndrome, is a genodermatosis originally described by Zinsser in 1906. It is an uncommon syndrome classically associated with the triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. The majority of people affected by the syndrome have a defect in the DKC1 gene encoding the dyskerin protein which is involved in telomere maintenance. Inheritance is most commonly x-linked recessive, and subsequently, males are three times more likely to be affected than females. Clinical findings vary widely and may include atrophic wrinkled skin, eye disease, and bone marrow failure. Treatment is difficult and largely requires an interprofessional approach. (Copyright © 2022, StatPearls Publishing LLC.) |
| Databáze: | MEDLINE |
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