neurofibromatosis

NEUROFIBROMATOSIS

One condition that may cause tumors to form on your nerve tissue is a rare genetic disorder called neurofibromatosis. These tumors can be ubiquitous, that is, they can develop in any part of your nervous system such as the brain, spinal cord, and nerves. The disorder is diagnosed typically during childhood or early adulthood.

 

Tumors are usually benign (noncancerous); however, they can sometimes be malignant (cancerous). Symptoms that usually can be felt are mild. However, there are a myriad of complications arising from the disorder, for example, hearing loss, cardiovascular problems, severe pain, learning impairment, and loss of vision.

Treatment of neurofibromatosis specifically focuses on fostering normal growth and development in children affected by the condition; this includes early management of complications.  If tumors may develop into large masses and eventually press on a nerve, surgery can reduce the symptoms associated with this disorder. Some other treatment options are also available.

TYPES

  • Neurofibromatosis 1 (NF1)
  • Neurofibromatosis 2 (NF2)
  • Schwannomatosis

SYMPTOMS

Symptoms of the disorder are usually classified according to the type of neurofibromatosis that you have. The following are characteristic features for each type:

NF1:

  • Flat, light brown spots on the skin (cafe au lait spots)
  • Freckling in the armpits or groin area
  • Tiny bumps on the iris of the eye (Lisch nodules)
  • Soft, pea-sized bumps on or under the skin (neurofibromas)
  • Bone deformities
  • Tumor on the optic nerve (optic glioma)
  • Learning disabilities
  • Larger than average head size
  • Short stature

NF2:

  • Gradual hearing loss
  • Ringing in the ears
  • Poor balance
  • Headaches
  • Numbness and weakness in the arms or legs
  • Pain
  • Balance difficulties
  • Facial drop
  • Vision problems or the development of cataracts

Schwannomatosis:

  • Chronic pain, which can occur anywhere in your body and can be disabling
  • Numbness or weakness in various parts of your body
  • Loss of muscle

DIAGNOSIS

Your doctor will begin with an evaluation of your personal and family medical history and perform a physical examination.

With the aid of a special lamp, your doctor will check your skin for café au lait spots, which can be useful in diagnosing NF1.

If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, your doctor might recommend:

TREATMENT

There is still no cure or specific treatment for neurofibromatosis. However, treatment is usually supportive and symptomatic, that is, doctors manage the complications of the disease. Overall, the sooner you receive treatment from a doctor, the better the quality of your life.

 

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