Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Nov;103(6):1035-1054.
doi: 10.1016/j.mcna.2019.07.004.

The Diagnosis and Management of Neurofibromatosis Type 1

K Ina Ly  1 , Jaishri O Blakeley  2
Affiliations
Review

The Diagnosis and Management of Neurofibromatosis Type 1

K Ina Ly et al. Med Clin North Am. 2019 Nov.

Abstract

Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis are related, but distinct, tumor suppressor syndromes characterized by a predilection for tumors in the central and peripheral nervous systems. NF1 is one of the most common autosomal dominant conditions of the nervous system. NF1 has a high degree of variability in clinical presentation, which may include multiple neoplasms as well as cutaneous, vascular, bony, and cognitive features. Some of these manifestations overlap with other genetic conditions. Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical features, diagnostic work-up, and management of NF1.

Keywords: Cutaneous neurofibroma; Nervous system; Neurofibromatosis type 1; Plexiform neurofibroma; RASopathy; Tumor predisposition syndrome.

PubMed Disclaimer

Supplementary concepts