Huang Jingxuan, Wang Zhichao
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China.
Neurofibromatosis Type 1 Center and Laboratory for Neurofibromatosis Type 1 Research, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2024 Oct 15;38(10):1161-1165. doi: 10.7507/1002-1892.202406088.
To summarize the terms and definitions related to neurofibromatosis type 1 (NF1) with a view to standardizing and unifying the existing terminology system.
To review the research literature related to NF1 at home and abroad, and to summarize the expressions of the disease and related terms.
There are still some limitations in the current knowledge of NF1, especially in the expression of the terminology, and there are discrepancies in the description and naming of NF1-related features in different medical literatures and clinical guides. There are differences in the description and naming of NF1-related features in different medical literature and clinical guidelines. Through a systematic review of the literature, this paper provides a detailed compendium and summary of the terms and definitions of NF1-related clinical manifestations, pathological features, and genetic types, and further standardizes and unifies existing diagnostic criteria and terminology systems.
The terms and definitions of NF1-related clinical manifestations are summarized to enhance the knowledge of clinicians and researchers related to NF1.
总结与1型神经纤维瘤病（NF1）相关的术语和定义，以规范和统一现有的术语系统。
查阅国内外与NF1相关的研究文献，总结该疾病及其相关术语的表达。
目前对NF1的认识仍存在一些局限性，尤其是在术语表达方面，不同医学文献和临床指南中对NF1相关特征的描述和命名存在差异。通过对文献的系统回顾，本文提供了一份关于NF1相关临床表现、病理特征和基因类型的术语及定义的详细汇编和总结，并进一步规范和统一了现有的诊断标准和术语系统。
总结NF1相关临床表现的术语和定义，以增进临床医生和研究人员对NF1的了解。
