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Definition

Neurofibromatosis is a genetic condition that usually causes benign (non-cancerous) tumors or malignant(cancerous) tumors to develop on nerve tissues anywhere in the nervous system, including the brain, the spinal cord or the nerves.

There are 3 kinds of neurofibromatosis -

  • Neurofibromatosis 1 (NF1) which is caused by the mutation of the NF1 gene located on chromosome 17 causing neurofibromin loss and uncontrolled growth of cells.
  • Neurofibromatosis 2 (NF2) which is caused by the mutation of the NF2 gene located on chromosome 22 causing merlin loss and uncontrolled growth of cells.
  • Schwannomatosis - only two genes have been identified that cause this rare disorder.

Symptoms

The common symptoms are -

  • Hearing loss
  • Vision loss
  • Severe pain
  • Learning difficulties and impairment
  • Heart and cardiovascular problems
  • In case of NF1: light brown flat spots called cafe au lait spots, freckling in the armpits and the groin region, Lisch nodules or tiny bumps on the iris of the eye, neurofibromas or soft bumps under the skin, bone deformities, optic glioma or tumor of the optic nerves,a larger than average head size, shorter stature and learning challenges like ADHD
  • In case of NF2 : gradual hearing loss, tinnitus, poor balance, headaches, numbness in the limbs, pain, facial drop and vision problems like cataracts
  • In case of Schwannomatosis: chronic pain, loss of muscle, numbness and weakness in most parts of the body

Risk Factors

The common risk factors of NF are family history and new gene mutations.

Diagnosis

Typically diagnosed in childhood or early adulthood.

Treatment

Usually, the treatment looks at maximizing healthy growth and development and also, to manage any complications

  • Constant monitoring from childhood
  • Therapies like stereotactic radiosurgery
  • Medications to mitigate and manage pain
  • Surgery to remove tumor pressure on nerves to ease symptoms or for implants in case of hearing loss

 

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