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伴有双侧眼表鳞状上皮肿瘤的着色性干皮病及文献综述

Xeroderma pigmentosum with bilateral ocular surface squamous neoplasia and review of the literature.

作者信息

Kalamkar Charudutt, Radke Nishant, Mukherjee Amrita, Radke Snehal

机构信息

Department of Ophthalmology, Shri Ganesh Vinayak Eye Hospital, Raipur, Chhattisgarh, India.

Shri Ganesh Vinayak Eye Hospital, Raipur, Chhattisgarh, India.

出版信息

BMJ Case Rep. 2016 May 10;2016:bcr2016215364. doi: 10.1136/bcr-2016-215364.

Abstract

Xeroderma pigmentosum is a rare genetic disorder associated with various ocular malignancies. Here we report a single paediatric case of xeroderma pigmentosum with bilateral ocular surface squamous neoplasia (OSSN) presenting with diffuse lesion in one eye and a large mass in the other eye. Diffuse OSSN in one eye was treated with topical chemotherapy using mitomycin-C (0.04%) and the large OSSN in the other eye was treated with a combination of surgery and topical chemotherapy. Long-term follow-up and a multimodality treatment approach are necessary to identify and manage recurrences of OSSN in XP.

摘要

着色性干皮病是一种与多种眼部恶性肿瘤相关的罕见遗传性疾病。在此,我们报告一例小儿着色性干皮病合并双侧眼表鳞状上皮肿瘤(OSSN)的病例,其中一只眼表现为弥漫性病变,另一只眼有一个大肿块。一只眼的弥漫性OSSN采用丝裂霉素C(0.04%)局部化疗,另一只眼的大OSSN采用手术和局部化疗联合治疗。对于识别和处理着色性干皮病患者中OSSN的复发,长期随访和多模式治疗方法是必要的。

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