What is Neurofibromatosis?

Neurofibromatosis

Neurofibromatosis is a group of rare genetic disorders that cause tumors to form on the nerve tissue. The tumors can develop in any spot of the nervous system – brain, spinal cord and nerves. These tumors are usually benign but they can also become cancerous or malignant.

Some meningiomas are known as atypical. These are not considered as either benign or malignant tumors. They have the possibility of becoming malignant. A small number of meningiomas can be cancerous and have the tendency to grow quickly. They also can spread to other parts of the brain or the body.

What are the symptoms of Neurofibromatosis?

Neurofibromatosis 1

Cafe au lait macules
Café-au-lait macules
Freckling
Freckling
Neurofibromas
Neurofibromas
Bone deformities
Bone deformities
Optic glioma
Optic glioma
Short stature
Short stature
Larger than average head size
Larger than average head size

Neurofibromatosis 2

Schwannomatosis

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

Neurofibromatosis is caused by mutations that are genetic or occur at conception. The specific genes mutated depend on the type of neurofibromatosis.

  • Family history
  • New gene mutations

Neurofibromatosis is usually diagnosed in childhood or early adulthood.

Treatment for this disease looks at maximising healthy growth and development and managing complications.

  • Constant monitoring
  • Therapies like
    • Stereotactic radiosurgery
  • Medications
  • Surgery
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