Condition Lookup

Neurofibromatosis

Facts

Neurofibromatosis (NF) is a genetic disorder that affects the nervous system. People affected by this condition develop non-cancerous tumours along their nerves. The tumours are called neurofibromas. They are a mass of different types of cells that grow on and surround nerves.

NF can also cause skin discolourations (also called "café au lait" spots) and bone abnormalities. Men, women, and people of all ethnic backgrounds may develop the condition.

Causes

The cause of NF is a change in a person’s genetic material, known as a genetic mutation. There are 2 genes that cause 2 different types of NF: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 was previously known as von Recklinghausen’s disease and occurs more commonly than NF2.

NF is a genetic condition. If either parent has the gene for NF, their child will have a 50% chance of inheriting the disease. In about half of the people affected with NF1, the gene mutation occurred spontaneously, meaning that the individual has no family history of the condition. Once the gene changes, NF may be passed on to the next generation.

Treatment and Prevention

No cure exists for NF. Instead, treatment primarily focuses on managing symptoms. In the rare cases of NF1 or NF2 where a tumour becomes cancerous, surgery and radiation may be necessary. This is often complicated as the tumours in NF2 are frequently close to the brain or spinal cord. Also, tumours may recur even after surgical removal. Non-cancerous tumours may be removed if they are causing pain, or for cosmetic reasons.

For children aged 2 to 18 years old with a specific type of NF1 called inoperable plexiform neurofibroma, a medication called selumetinib may be able to decrease the tumour growth.

Medications can help with nerve pain and high blood pressure. There may be related anxiety and depression if present, which should also be treated.

In cases of NF1, surgery can help correct bone deformities. Back braces can be used to provide stability and support for people with scoliosis.

All material copyright MediResource Inc. 1996 – 2026. Terms and conditions of use. The contents herein are for informational purposes only. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Source: www.medbroadcast.com/condition/getcondition/Neurofibromatosis