Research progress of dyskeratosis congenita
10.3760/cma.j.issn.1002-0098.2019.02.010
- VernacularTitle: 先天性角化不良的研究进展
- Author:
Fei WANG
1
;
Yuqi DU
;
Wang GONG
;
Chongkui SUN
;
Xin ZENG
Author Information
1. Department of Oral Medicine, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Chengdu 610041, China
- Publication Type:Review
- Keywords:
Dyskeratosis congenita;
Leukoplakia, oral;
Telomere;
Bone marrow failure
- From:
Chinese Journal of Stomatology
2019;54(2):130-134
- CountryChina
- Language:Chinese
-
Abstract:
Dyskeratosis congenita (DC) is a rare disease and a genetic heterogeneity of bone marrow failure, characterized by muco-cutaneous triad of mucosal leukoplakia, abnormal skin pigmentation, nails dystrophy and often involving multiple organs or systems. The inheritance patterns of DC include X-linked recessive, autosomal dominant and recessive patterns. However, the inheritance patterns in 30%-40% of DC patients remained unknown. Dyskeratosis congenita is difficult to diagnose because of its genetic and clinical heterogeneity. This article will review and discuss the state-of-the-art progresses in genetics, clinical manifestation, diagnosis, differential diagnosis, treatment and prognosis of DC.
