• 1. Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China;
  • 2. 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;
WANG Zhichao, Email: shmuwzc@163.com
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Objective To summarize the terms and definitions related to neurofibromatosis type 1 (NF1) with a view to standardizing and unifying the existing terminology system. Methods  To review the research literature related to NF1 at home and abroad, and to summarize the expressions of the disease and related terms. Results  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. Conclusion The terms and definitions of NF1-related clinical manifestations are summarized to enhance the knowledge of clinicians and researchers related to NF1.

Citation: HUANG Jingxuan, WANG Zhichao. Clarification the terms and definitions related to neurofibromatosis type 1. Chinese Journal of Reparative and Reconstructive Surgery, 2024, 38(10): 1161-1165. doi: 10.7507/1002-1892.202406088 Copy

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