[Clarification the terms and definitions related to neurofibromatosis type 1].

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.