着色性干皮病伴颜面部皮肤反复恶变1例报告

Xeroderma pigmentosum with repeated facial skin carcinogenesis:report of one case

着色性干皮病(xeroderma pigmentosum,XP)是一种临床上较罕见的色素性萎缩性常染色体隐性遗传疾病,主要是由于DNA切除修复功能缺陷,不能有效清除紫外线所致的嘧啶二聚体,从而导致细胞损伤所致。本文报告1例伴口腔颌面部基底细胞癌反复发作的中年着色性干皮病患者,并通过相关文献复习,介绍着色性干皮病的病因、病理、临床特点、分类、诊断和治疗方法等。

Xeroderma pigmentosum is a relatively rare pigment atrophic autosomal recessive genetic disease,mainly due to defect of DNA excision repair capacity,resulting in ineffective removal of UV-induced pyrimidine dimers,and finally cell damage.This paper reported a case of xeroderma pigmentosum with recurrent episodes of oral and maxillofacial carcinogenesis,and discussed the etiology,pathology,clinical characteristics,classification,diagnosis and treatment methods of Xeroderma pigmentosum.