3

What is neurofibromatosis and what are its symptoms? I researched it and it still isn't clear to me.

Also, at what age does one show the first signs of it?

2

In essence, neurofibromatosis is a disorder that makes nerve cells grow out of control and develop tumors. These tumors can be anywhere nerve cells are, so in the brain, spine, etc. Tumors, to most people, mean cancer, but cancers are a special (malignant) form of tumors. The tumors in neurofibromatosis may or may not develop into cancer. However, even if neurofibromatosis doesn't develop into cancer, the tumors can cause pain and other symptoms (such as hearing loss) because they press on nerves.

It's usually recognized in childhood or early adulthood. There are three forms:

Neurofibromatosis 1:

The most common form, symptoms appear in children, some of them in young children (under 5)

  • Flat, light brown spots on the skin
  • Freckling in the armpits or groin area
  • Soft bumps on or under the skin (neurofibromas)
  • Tiny bumps on the iris of your eye
  • Bone deformities
  • Learning disabilities
  • Larger than average head size
  • Short stature

Neurofibromatosis 2

Less common and usually appears in teenagers. Symptoms are:

  • Gradual hearing loss
  • Ringing in the ears
  • Poor balance
  • vision problems
  • facial drop
  • numbness and weakness in the arms or legs
  • pain

Schwannomatosis

A rare form only recently discovered that usually doesn't get dicovered until people are over 20 or even 30. It causes painful tumors, but not in the nerves that are responsible for hearing, so it doesn't cause hearing loss

Neurofibromatosis is a genetic disorder, that means it's inherited and not caused by anything environmental.

Sources:

Mayo Clinic - general overview

Mayo Clinic - Symptoms (source of the quotes, and more details on the symptoms)

NINDS Neurofibromatosis Information Page

Your Answer

By clicking “Post Your Answer”, you agree to our terms of service, privacy policy and cookie policy