Neurofibromatosis (NF1 and NF2)

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Diagnosing and Treating Neurofibromatosis

Neurofibromatosis is usually first suspected by a pediatrician, who will then refer the child to a specialist at a major medical center. Diagnostic tests for neurofibromatosis include:

  • Blood tests, including genetic testing
  • X-ray to look for tumors and abnormalities in bones and organs
  • Magnetic resonance imaging (MRI) to produce three-dimensional images of organs and structures within the body.
  • Computed tomography (CT) scans to show abnormal growths in bones, muscles, fat, and organs
  • Electroencephalogram (EEG) to measure electrical activity in the brain
  • Eye examination to look for tumors and cataracts
  • Biopsies of skin tumors


The criteria for diagnosing neurofibromatosis type 1 (NF 1) are met if a patient has any two of the following:

  • 6 or more café au lait spots
  • 2 or more neurofibromas  (benign skin tumors)
  • bone lesions
  • a family history of NF1
  • Lisch nodules (small tumors on the iris)
  • freckles in the armpits or groin
  • glioma (a type of brain tumor)


Treatment Options
Treatments for neurofibromatosis are symptomatic, meaning that they treat the symptoms but do not cure the disease. Individuals with neurofibromatosis may be treated with medicine, pain management techniques, various therapies, and surgery, as the symptoms require. Surgery is a common treatment for removing skin tumors, for therapeutic as well as cosmetic reasons. When a painless skin tumor becomes painful, it may mean that it’s developing into a neurofibrosarcoma, which is a malignant tumor that must be surgically removed. (Find out more about Surgery for Neurofibromatosis.)

Neurofibromatosis is a complicated disorder, and it should be treated at a major medical center by specialists with expertise in the condition. The Neurofibromatosis Program at the Weill Cornell Pediatric Brain and Spine Center offers the services of specialists from a wide range of disciplines to be sure each patient gets the individualized treatment plan that will create the best outcomes.

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Reviewed by: Jeffrey Greenfield, Ph.D., M.D.
Last reviewed/last updated: January 2015