Neurofibromatosis

genetic disorder that causes tumors to form on nerve tissue

About

There are 3 types: NF1 (Recklinghausen NF), NF2 (Bilateral Acoustic NF), and Schwannomatosis. NF1 is caused by a gene mutation on Chromosome 17. NF2 is caused by a gene mutation on Chromosome 22. These two are both autosomal dominant genetic disorders. Schwannomatosis is still being researched. Researchers are still not sure whether it is inherited or spontaneous. There is no cure, and it can not be prevented.
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Symptoms

NF1

  • flat, light brown spots on skin
  • freckles under armpits
  • soft bumps on or under skin
  • bumps on iris
  • bone deformities
  • learning disabilities
  • larger head
  • tumors anywhere on the body

NF2

  • gradual hearing loss due to acoustic neuromas forming on nerves that send sound to the brain
  • ringing in ears
  • poor balance

Scwannomatosis

  • painful tumors (schwannomas) on cranial, peripheral, and spinal nerves

Diagnosis and Treatment

  • physical exam
  • medical history
  • eye exam
  • ear exam
  • imaging tests (aren't required but help find tumors and identify bone deformities)
  • genetic tests
  • surgery to remove tumors, stereotactic radiosurgery, auditory brain stem implants, and cochlear implants

Who does it affect?

Neurofibromatosis is not more common in any group of people more than the other. NF1 is occurs in about 1:3,000 births. NF2 occurs in about 1:25,000 births. Schwannomatosis occurs in about 1:40,000 individuals. Parents who have NF have a 50% chance of passing the disorder on to their children.

NF1:

  • unaffected parents who have a child with NF1, have a 1:7,000 chance of their next child being born with NF1

Schwannomatosis:

  • not sure but researchers believe there is a 15% chance that a child will be born with Schwannomatosis by an unaffected parent

Research

The National Institute of Neurological Disorders and Stroke are still researching NF in hopes to find a cure and ways to prevent it. They have discovered additional genes that play a role in the growth of NF tumors. They are studying genes and proteins to help reveal how they control the growth of tumors. NINDS is using a clinical research to better understand the mutations that are causing NF1. They are also researching with groups of children with NF1 to help parents know what disabilities to expect.
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May is NF Awareness Month!

How Does It Feel to Look Different?

Resources