The Diagnosis and Management of Neurofibromatosis Type 1

Med Clin North Am. 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004.


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.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Disease Management
  • Genetic Testing / methods*
  • Humans
  • Neurilemmoma / diagnosis*
  • Neurofibromatoses / diagnosis*
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / therapy
  • Skin Neoplasms / diagnosis*

Supplementary concepts

  • Schwannomatosis