Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective

Lancet Neurol. 2007 Apr;6(4):340-51. doi: 10.1016/S1474-4422(07)70075-3.


Historically, neurofibromatosis 1 (NF1) has been inextricably linked with neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous disorders that have high de novo mutation rates and carry a high risk of tumour formation. However, they are clinically and genetically distinct diseases and should be considered as seperate entities. NF1 is a common disease that mainly affects the skin and peripheral nervous system and causes characteristic bony dysplasia. By contrast, NF2 is a rare disorder with a relative paucity of skin manifestations and high-grade malignancy is unusual. Neurological symptoms are the predominant problem and the cardinal sign is bilateral vestibular schwannomas. In this Review, I discuss the pertinent diagnostic, clinical, and genetic symptoms of NF1 and NF2. I also examine the current views on the pathogenesis of these neurocutaneous disorders in the wake of advances in molecular genetics and the development of mouse models of disease.

Publication types

  • Review

MeSH terms

  • Cognition Disorders / genetics
  • Cognition Disorders / pathology
  • Cognition Disorders / physiopathology
  • Diagnosis, Differential
  • Disease Progression
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Neurilemmoma / genetics
  • Neurilemmoma / pathology
  • Neurilemmoma / physiopathology
  • Neurofibroma, Plexiform / genetics
  • Neurofibroma, Plexiform / pathology
  • Neurofibroma, Plexiform / physiopathology
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / physiopathology*
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / physiopathology*
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology