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.
先天性角化不良（dyskeratosis congenita，DC）是一种具有遗传异质性的骨髓衰竭综合征，属临床罕见病，典型临床表现为皮肤黏膜三联征，包括黏膜白斑、皮肤色素异常、指（趾）甲营养不良，同时可累及多脏器、多系统。DC有伴X染色体隐性、常染色体显性和隐性三种遗传方式，尚有30%~40% DC患者遗传基础不明，同时DC临床表现多样，临床确诊有一定难度。本文将从DC的遗传学、临床表现、诊断、鉴别诊断、治疗及预后等方面探讨其研究进展。.
Keywords: Bone marrow failure; Dyskeratosis congenita; Leukoplakia, oral; Telomere.