Healthy Living

What is Neurofibromatosis?

What is Neurofibromatosis?

Key Takeaways

  • Neurofibromatosis is a genetic disorder that can be passed down from any one parent who carries the gene.

Neurofibromatosis is a genetic disorder that affects the development of nerve cells and tissues in the body, leading to the formation of tumors in different parts of the nervous system. These tumors, also known as neurofibromas, may develop in the brain, spinal cord, along the nerves, or under the skin. This neurological disorder is categorized into neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and the lesser known, Schwannomatosis. In most cases, the tumors remain noncancerous, but in some rare cases, they may become malignant. Neurofibromatosis may lead to loss of hearing, loss of vision, severe pain, and disability due to compression of nerves.

Neurofibromatosis is caused by an inherited genetic condition where in the mutated gene is passed on from one of the parents. The risk of developing this neurological disorder is about 50%, if one of the parents have the faulty gene. In some cases, a spontaneous gene mutation may also result in this neurological disorder, and about 30% of the people with neurofibromatosis belong to this category. The mutated gene can then be passed on to future generations.

The characteristic symptoms of NF1 include:

  • Presence of light brown skin, called café au lait spots
  • Freckles on the skin, particularly in the arm pit and groin
  • Small clumps of pigments, called Lisch nodules, in the iris of the eye
  • Tumors on or under the skin
  • Malformation of the bones, like bowed legs and curvature of the spine (scoliosis)
  • Neurological pain
  • Tumors in the optic nerve

NF2 is characterized by symptoms including:

  • Weakness of muscles of the face leading to facial numbness.
  • Lack of coordination
  • Dizziness
  • Loss of hearing or ringing noise in ears
  • Atrophy of muscles
  • Brain tumor
  • Development of cataracts at an early age
  • Lack of balance while moving

Hearing loss in NF2 is caused by the formation of tumors in vestibular nerves, or the eighth cranial nerve, which compress the acoustic nerves.

Symptoms of Shwannomatosis include:

  • Tumors causing pain
  • Numbness or tingling in toes
  • Weakness in toes and fingers

There is no complete cure for NF1 or NF2. Different treatment options try to alleviate the symptoms of neurofibromatosis. Many symptoms, like the café au lait spots, do not require any specific treatment.

Some of the common treatment options include:

  • Surgery to remove tumors
  • Chemotherapy for treating malignant tumors
  • Physical therapy
  • Counselling
  • Pain management
  • Surgery to treat the bone problems
  • Cochlear implant after removal of tumor in the ear