Ocular Oncology Service, Department of Ophthalmology and Visual Sciences, Federal University of São Paulo, Rua Botucatu, 822, São Paulo, Brazil.
Indian J Ophthalmol. 2019 Jul;67(7):1190-1192. doi: 10.4103/ijo.IJO_1106_18.
Xeroderma pigmentosum (XP) is an autosomal recessive disease with ophthalmic, dermatologic, and neurologic manifestations. Ophthalmological changes are described in up to 100% of XP patients. We report a young XP patient that presented with bilateral conjunctival masses. She was treated by surgical excision with supplemental cryotherapy. The histopathological analysis revealed squamous cell carcinoma with melanosis on right eye and conjunctival melanoma on the left eye. These patients need to be followed by dermatologists and ophthalmologists to identify malignant lesions as soon as possible and also to prevent unnecessary surgery that increases mutilation.
着色性干皮病(XP)是一种常染色体隐性遗传病,具有眼部、皮肤和神经表现。多达 100%的 XP 患者存在眼部变化。我们报告了一名年轻的 XP 患者,她表现为双侧结膜肿块。她接受了手术切除联合补充冷冻治疗。组织病理学分析显示右眼为鳞状细胞癌伴黑色素沉着,左眼为结膜黑色素瘤。这些患者需要由皮肤科医生和眼科医生进行随访,以便尽快发现恶性病变,并防止增加毁容风险的不必要手术。