摘要
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。
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.
作者
王非
杜玉琦
龚旺
孙崇奎
曾昕
Wang Fei;Du Yuqi;Gong Wang;Sun Chongkui;Zeng Xin(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)
出处
《中华口腔医学杂志》
CAS
CSCD
北大核心
2019年第2期130-134,共5页
Chinese Journal of Stomatology
基金
国家自然科学基金(81771081).