着色性干皮病继发眼部肿瘤2例:鳞状上皮病变和非典型纤维黄色瘤  

Ocular Tumors Secondary to Xeroderma Pigmentosum:Squamous Intraepithelial Neoplasia/Squamous Cell Carcinoma and Atypical Fibroxanthoma

作　　者：刘璐 杨宇婧 龚岚 毕颖文 Lu Liu;Yujing Yang;Lan Gong;Yingwen Bi(Department of Pathology,Eye and ENT Hospital of Fudan University,Shanghai 200031,China;Department of Ophthalmology,Eye and ENT Hospital of Fudan University,Shanghai 200031,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院病理科,上海200031 [2]复旦大学附属眼耳鼻喉科医院眼科,上海200031

出　　处：《中华眼视光学与视觉科学杂志》2025年第1期28-35,共8页Chinese Journal Of Optometry Ophthalmology And Visual Science

摘　　要：目的:探讨着色性干皮病(XP)继发眼表肿瘤的临床病理及免疫组织化学特征。方法:回顾性分析。收集2000年至今复旦大学附属眼耳鼻喉科医院收治的2例着XP继发眼表肿瘤患者的临床资料,分析组织学形态、免疫组织化学标记及预后,并复习相关文献。结果:2例患者(1男1女)均自幼诊断为XP,均因眼表新生物于复旦大学附属眼耳鼻喉科医院就诊。男性患者初次就诊年龄10岁,并在随后17年间入院10次,行手术切除治疗9次,病理诊断包括左眼角结膜原位癌伴早期间质浸润(4次)、左眼角结膜鳞状上皮内瘤变(2次)、右眼睑鳞状细胞癌(1次)、左眼睑角化棘皮瘤(1次)和左眼角膜非典型纤维黄色瘤(1次)。女性患者19岁时行左眼结膜肿物手术切除,病理诊断为原位癌伴早期间质浸润。结论:着色性干皮病患者易在眼睑及角结膜日光暴露区域发生肿瘤,除最常见的鳞状上皮内瘤变及鳞状细胞癌,还可发生罕见的非典型纤维黄色瘤。XP患者继发的眼部肿瘤极易复发,早期手术干预可控制肿瘤进展并改善预后。Objective:To investigate the clinicopathological features and immunohistochemical expression of ocular surface tumors secondary to xeroderma pigmentosum(XP).Methods:A retrospective analysis was conducted on two XP patients who developed secondary ocular surface tumors and were treated at the Eye and ENT Hospital of Fudan University from 2000 to the present.Additionally,relevant literature was also reviewed.Results:Both patients(one male,one female)were diagnosed with XP in early childhood and presented to the Eye and ENT Hospital of Fudan University with ocular surface neoplasms.The male patient was 10 years old at the initial visit and over the subsequent 17 years,underwent 10 hospital admissions,during which he received 9 surgical resections.Pathological diagnoses included carcinoma in situ with early stromal invasion of the left cornea and conjunctiva(four times),squamous intraepithelial neoplasia of the left cornea and conjunctiva(twice),squamous cell carcinoma of the right eyelid(once),keratoacanthoma of the left eyelid(once),and atypical fibroxanthoma(AFX)of the left cornea(once).The female patient was treated with surgical excision of the left conjunctival lesion at age 19,which was diagnosed as carcinoma in situ with early stromal invasion.Conclusions:XP patients are prone to develop tumors in sun-exposed areas,particularly in the eyelids,cornea,and conjunctiva.In addition to common epithelial tumors,rare AFX can also occur on the ocular surface.Despite the high recurrence rate of ocular tumors in XP patients,early surgical intervention can effectively manage disease progression and improve prognosis.

关 键 词：着色性干皮病 非典型纤维黄色瘤 眼表肿瘤 继发性 鳞状细胞癌 

分 类 号：R73[医药卫生—肿瘤]