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Neurofibromatosis

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What Are the Symptoms of Neurofibromatosis?

The following symptoms appear in people with NF1:

  • Several (usually 6 or more) café au lait spots
  • Multiple freckles in the armpit or groin area
  • Tiny growths in the iris (colored area) of the eye; these are called Lisch nodules and usually do not affect eyesight.
  • Neurofibromas that occur on or under the skin, sometimes even deep within the body; these are benign (harmless) tumors; however, in rare cases, they can turn malignant or cancerous.
  • Bone deformities, including a twisted spine (scoliosis) or bowed legs
  • Tumors along the optic nerve, which may cause eyesight problems
  • Nerve-related pain

People with NF2 often display the following symptoms:

  • Loss of hearing
  • Weakness of the muscles of the face
  • Dizziness
  • Poor balance
  • Uncoordinated walking
  • Cataracts (cloudy areas on the lens of the eye) that develop at an unusually early age 

People with schwannomatosis may have the following symptoms:

  • Pain from the enlarging tumors
  • Numbness and tingling of the fingers or toes
  • Weakness in the fingers and toes

 

How Is Neurofibromatosis Diagnosed?

Neurofibromatosis is diagnosed using a number of tests, including:

  • Physical examination
  • Medical history
  • Family history
  • X-rays
  • Computerized tomography (CT) scans
  • Magnetic resonance imaging (MRI)
  • Biopsy of neurofibromas
  • Eye tests
  • Tests for particular symptoms, such as hearing or balance tests
  • Genetic testing (available for families with documented cases of NF1 and NF2); at this time, there is no genetic test available for schwannomatosis.

To receive a diagnosis of NF1, you must have 2 of the following symptoms:

  • Six or more café au lait spots that are 1.5 cm or larger in post-pubertal individuals or 0.5 cm or larger in pre-pubertal individuals
  • Two or more neurofibromas (tumor that develops from the cells and tissues that cover nerves) of any type or one or more plexiform neurofibroma (nerve that has become thick and misshapen due to the abnormal growth of cells and tissues that cover the nerve)
  • Freckling in the armpit or groin
  • Optic glioma (tumor of the optic pathway)
  • Two or more Lisch nodules
  • A distinctive bony lesion, dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex
  • A first-degree relative with NF1

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