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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 features, pathological features, diagnosis, treatment and prognosis of neurofibromatosis type 1 (NF1). Methods One case of orbital NF1 was analyzed and discussed in the literature. Results NF1 was generally present in childhood and was characterized by skin pigmentation (milk coffee spots) and multiple neurofibromas, and eye damage was common. Histological manifestations of neurofibromatosis, is an autosomal genetic disease, 5% to 10% of the development of malignant schwannoma possible. Immunohistochemical staining showed: S100, NSE and other positive. Conclusion Neurofibromatosis is an autosomal dominant genetic disease, which can be divided into two subtypes of NF1 and NF2, NF1 more common. The clinical manifestations of the disease varied, progressive, lesions are widely distributed in children orbital as a frequent site, mainly symptomatic treatment, prevention and new treatment needs further study.