[Clarification the Terms and Definitions Related to Neurofibromatosis Type 1]

Overview

Journal Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi

Specialty General Surgery

Date 2024 Oct 21

PMID 39433487

Authors

Jingxuan Huang

Zhichao Wang

Affiliations

Soon will be listed here.

Abstract

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.

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