着色性干皮病继发眼部恶性肿瘤的临床特点及其手术治疗

目的 探讨着色性干皮病继发眼部恶性肿瘤的临床、病理、手术治疗方法及预后.方法 回顾性病例研究.1999-2008年间收治的着色性干皮病继发眼部恶性肿瘤患者5例,平均年龄(44.6±4.9)岁,采用手术治疗,并对这些患者的手术方式、肿瘤病理学检查和免疫组化检查结果进行分析.结果 病理学及免疫组化检查显示结膜角膜黑色素瘤1例,基底细胞癌3例,恶性神经鞘瘤1例.5例患者随访3～6年、2例术后再发肿瘤,l例为毛发上皮瘤,1例为鳞状细胞癌.结论 继发于着色性干皮病的眼部肿瘤多为恶性,有复发倾向,虽然眼部并发的恶性肿瘤发病进展快、预后差,但及时的手术干预,可以明显改善预后.术中可根据冰冻病理检查,对已发生癌变者行大面积切除、植皮,手术治疗范围要足够大.

Clinical characteristics and surgical treatment of oculocutaneous malignancy secondary to xeroderma pigmentosum

Objective To investigate clinical manifestations, pathology, surgical treatment and prognosis of oculocutaneous malignancy secondary to xeroderma pigmentosum. Methods This was a retrospective case series study. The case records of 5 malignancy patients secondary to xeroderma pigmentosum visited Beijing Tongren Eye Center between 1999 and 2011 were reviewed, and the mean age of the patients was 44.6±4.9 years. Surgical and other treatment and imnmnohistochemical staining were analyzed. Results The results of pathological and imlnunohistochemical examinations showed that 1 case had malignant neurinoma, and 3 cases had basal cell carcinoma, and 1 case had malignant melanocytoma. All these cases were followed-up for 3 to 6 years. In 2 cases the malignancy relapsed, one was squamous cell carcinoma, another trichoepithelioma. Conclusion Oculocutaneous tumor secondary to xeroderma pigmentosum usually is malignant, and tends to recur. Although the characteristics of this disease include a rapidly progressive clinical course of the malignant tumor in the eye and a poor prognosis, timely surgical removal will significantly improve the prognosis. Massive resection and skin grafting should be performed during the surgery according to the results of pathological examination on the cryostat sections, and the range of surgical treatment should be large enough.