着色性干皮病合并唇、舌癌1例报告及文献复习

Malignant tumors in xeroderma pigmentosum patients:Case report and review of the literature

着色性干皮病(xeroderma pigmentosa,XP)是一种罕见的常染色体隐性遗传病,典型症状为皮肤雀斑样色素沉着,皮肤干燥脱屑以及毛细血管扩张,部分患者伴有眼部症状及神经系统异常。患者对日光高度敏感,易诱发光化性皮肤癌,大多数患者在年轻时就死于恶性肿瘤。本文报告1例伴口腔颌面部鳞状细胞癌及基底细胞癌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临床损害特点、诊断标准、分类及治疗等。

Xeroderma pigmentosum is a rare,autosomal recessive inherited disease characterized by dry,pigmented skin,spidery blood vessels in the skin,skin cancers,and sometimes other abnormalities of both the eyes and neurological symptoms.Patients with this disease show hypersensitivity to sunlight and extreme susceptibility to sun-light-induced cutaneous cancers.The majority of the patients die by early adulthood due to malignant cancers.A case of xeroderma pigmentosum patient with squamous cell carcinoma and basal cell carcinoma in the oral and maxillofacial region was reported.In addition,the etiological factors,clinical features,diagnostic criteria,classification and treatment of XP were described based on review of recent articles.