摘要
目的探讨Ⅰ型神经纤维瘤病的诊断及治疗。方法自2009年1月至2017年4月，我们共收治26例Ⅰ型神经纤维瘤病患者，结合近期国内外文献报告，分析其临床发病特点，筛选可靠治疗方法。结果本组26例中14例有家族史，占53．8％；12例散发，占46．2％。其中24例行手术治疗，病理诊断结合临床诊断为Ⅰ型神经纤维瘤病。术后随访23例，时间为3-102个月，平均42个月，1例恶性病例死亡，1例非原位复发行二次手术，余无复发。结论Ⅰ型神经纤维瘤病为常染色体显性遗传病，临床表现以体表牛奶咖啡斑和外周神经纤维瘤为特征，以骨及眼的发育障碍为表征，手术治疗是矫正畸形、修复组织结构的首选治疗方法。
Objective To explore the diagnosis and treatment of neurofibromatosis type I through clinical retrospective study. Methods From January 2009 to April 2017, 26 cases of neurofibromatosis type I were treated. Combined with the recent domestic and foreign literature reports, the clinical characteristics of the disease were analyzed, and the reliable treatment methods were selected. Results A total of 26 cases were enrolled in this study. Among them, 14 cases had family history, accounting for 53.8%, and 12 cases were sporadic, accounting for 46.2%. 24 cases underwent surgical treatment. It was pathologically and clinically diagnosed as neurofibromatosis type I. 23 cases were follow-up from 3 to 102 months with an average of 42 months. 1 malignant case died. Secondary surgery was conducted in 1 case of non in situ recurrence. No recurrence occurred in the rest cases. Conclusion Neurofibromatosis type I is an autosomal dominant genetic disease. The characteristic clinical manifestations are caf6-au-lait spots and peripheral neurofibroma. Moreover, it is featured by bone and eye developmental disorders. Surgical treatment is the first choice for correction of deformity and repair of tissue structure.
作者
贾雪原
黄东旭
余欣
蒋子平
路来金
Jia Xueyuan, Huang Dongxu, Yu Xin, Jiang Ziping, Lu Laijin(Department of Hand and Foot Surgery the First Hospital of Jilin University, Changchun 130021, Chin)
出处
《中华手外科杂志》
CSCD
北大核心
2018年第2期118-120,共3页
Chinese Journal of Hand Surgery
关键词
神经纤维瘤病
回顾性研究
Ⅰ型
Neurofibromatoses
Retrospective studies
Type Ⅰ
