眼眶神经纤维瘤病Ⅰ型1例  

Oribital neurofibroma type 1: report of one case and review of literature

作　　者：张晓野[1] 于冉冉[1] 高靖[1] 郭海燕[1] 

机构地区：[1]山东中医药大学第二附属医院病理科,济南250001

出　　处：《诊断病理学杂志》2016年第7期534-536,共3页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨神经纤维瘤病I型（NF1）的临床特点、病理特征、诊断、治疗与预后。方法分析1例眼眶NF1患者的临床资料，并结合文献进行讨论。结果NF1一般在儿童期发病，以皮肤色素沉着（牛奶咖啡斑）、多发性神经纤维瘤为特征，眼部损害常见。组织学表现为神经纤维瘤病，属常染色体遗传病，5％～10％有发展为恶性神经鞘瘤的可能。免疫组化标记显示：S100、NSE等阳性。结论神经纤维瘤病是常染色体显性遗传病，可分为NF1和NF2两种亚型，NF1多见。此病临床表现多样，呈渐进性，病灶分布广泛，小儿眼眶为常发部位，以对症治疗为主，预防与新的治疗方法有待于进一步研究。Objective To investigate the clinical pathological features, diagnosis, therapy and prognosis of neurofibroma. Methods One ease of oribital neurofibroma associated with neurofibromatosis type 1 was discussed and relative literature was reviewed. Results Neurofibromatosis type 1, characterized by skin pigmentation （cafaulait spots） and multiple neurofibrom, usually occurred in childhood. Eye damage was common. Histologically, neurofibromatosis was the most common finding, and it belonged to the autosomal genetic disorder. About 5% -10% of lesions had the potential to develop into malignant schwannoma. Immunohistochemical examination showed positive reaction for S-100 and NSE. Conclusion Neurofibroma is an autosomal dominant syndrome, including two types （NF1 and NF2 ）, and NF1 is more commonly found. Its clinical manifestation is distinct, the lesions are widely distributed and usually occurs in the eye socket in pediatric cases. Treatment is symptomatic, and its prevention and new therapy need further research.

关 键 词：神经纤维瘤病I型 眼眶 病理诊断 

分 类 号：R739.7[医药卫生—肿瘤]