Neurofibromatosis (NF)

What is neurofibromatosis (NF)?

Neurofibromatosis is a genetic disorder affecting the nervous system. It causes tumors to form on the nerve tissue, affecting how the nerve cells grow. Tumors occurring on nerves are called neurofibromas. In people with this disorder, tumors can form anywhere in the nervous system such as the brain, nerves, and spinal cord. These tumors are typically benign (noncancerous), but can sometimes become malignant (cancerous). The disorder is usually found when one is a child or during early adulthood. 
There are three types of neurofibromatosis:
  • Neurofibromatosis 1 (NF1): This type usually appears in childhood. Signs and symptoms are typically apparent at birth and at the latest by age 10. A characteristic sign of NF1 is light brown, flat spots on the skin called café au lait spots
  • Neurofibromatosis 2 (NF2): This type is less common than NF1. It is characterized by multiple tumors in the cranial and the spine nerves. Signs and symptoms usually develop due to benign, slow growing tumors called acoustic neuromas. These tumors occur on the nerves in the ear that carry sound from the inner ear to the brain. 
  • Schwannomatosis: This type is rare and usually occurs after age 20. It causes tumors on the cranial, spinal, and peripheral nerves, but not on the hearing nerves like in NF2. People with this type of neurofibromatosis often experience chronic pain. 

*The symptoms of neurofibromatosis usually aren’t severe, but the disorder can end up causing more severe complications depending on where the tumors are located and their size. Signs and symptoms also differ depending on the type of neurofibromatosis one has.*

Risk factors
  • Family history of neurofibromatosis: About half of the people with NF1 and NF2 inherited the disease. The other half developed the disease due to gene mutations. 
Diagnosis of neurofibromatosis will likely start with a complete medical history and physical exam. The doctor will also likely review your family history. In people with NF1, a physical exam will often reveal café au lait spots, which are characteristic of the disease. 
Some tests that may be done to diagnose neurofibromatosis include:
  • Genetic tests may be used to diagnose NF1 and NF2. These tests can be done prenatally. Genetic tests for schwannomatosis are more limited. 
  • Eye exams can be done to detect Lisch nodules and cataracts, which can occur in NF1/NF2. This is not a definitive diagnosis of neurofibromatosis, however. 
  • Ear exams such as audiometry, electronystagmography, and brainstem auditory evoked response, may be used to look for the hearing problems that can be characteristic of NF2. 
  • Imaging tests such as X-rays, CT scans, and MRIs can be used to detect tumors in the brain or spinal cord. 

*To be diagnosed with NF1, one must have at least two signs/symptoms of the condition. Diagnosis is usually made by the age of 4. To be diagnosed with NF2 typically one must have bilateral acoustic neuromas.* 

There is no cure for neurofibromatosis, treatment is generally aimed at managing signs and symptoms and monitoring for any disease progression. 
Potential treatments for neurofibromatosis include:
  • Surgery to remove tumors
  • Stereotactic radiosurgery
  • Auditory brainstem implants
  • Cochlear implants
  • Pain medications
  • Antidepressants
  • Anticonvulsants 
  • Cancer treatment if tumors become malignant 
  • Cataract removal
  • Neurofibromatosis affects approximately every 1 in 3,000 people
  • NF1 is one of the most common inherited neurological disorders and is the most common type of neurofibromatosis 
  • NF1 affects approximately 100,000 Americans 
  • NF2 occurs in about 1 in every 25,000 births
  • 3-5% of people with NF1 develop cancerous tumors 
about neurofibromatosis

  • "Neurofibromatosis." Mayo Clinic. Mayo Foundation for Medical Education and Research, 11 Aug. 2017. Web. 17 Nov. 2017.
  • “Neurofibromatosis.” WebMD, 30 Apr. 2017. Web. 17 Nov. 2017. 
  • “Neurofibromatosis.” National Institutes of Health U.S. National Library of Medicine. MedlinePlus, 01 Feb. 2017. Web. 17 Nov. 2017. 
  • “Neurofibromatosis.” The Nemours Foundation. KidsHealth, n.d. Web. 17 Nov. 2017.
  • “About NF1.” Children’s Tumor Foundation, n.d. Web. 17 Nov. 2017. 
  • “neurofibromatosis type 1.” National Institutes of Health U.S. National Library of Medicine. Genetics Home Reference, 14 Nov. 2017. Web. 17 Nov. 2017.  



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