Neurofibromatosis

What is neurofibromatosis?

Neurofibromatosis is a genetic condition characterised by the growth of neurofibromas. These are a type of tumour that is usually benign, or non-cancerous, although in rare cases they can be cancerous. These neurofibromas can form wherever there are nerve cells in the body.

Neurofibromatosis is not curable, but it is manageable and many people with the condition lead normal lives.

What are the types of neurofibromatosis?

There are 3 types of neurofibromatosis:

• neurofibromatosis type 1 (NF1) — the most common form, caused by a change in a gene on chromosome 17
• neurofibromatosis type 2 (NF2) — a very rare form, caused by a change in a gene on chromosome 22
• schwannomatosis — similar to NF2, but not associated with inner ear tumours and hearing loss

What are the symptoms of neurofibromatosis?

The signs and symptoms differ from person to person, depending on what type of the condition they have.

In NF1, benign tumours commonly grow on the skin. A common feature of NF1 is ‘café au lait’ spots, which are harmless coffee-coloured skin patches. Most people have 1 or 2 of these spots, but people with NF1 always have 6 or more. In NF1, tumours can also appear on the optic nerve and on the iris in the eye. These tumours might or might not affect vision.

In NF2, the benign tumours usually develop in the ears, but they can also be found within the spinal cord and brain. Symptoms can include hearing loss and problems with swallowing, speech, balance and eye movements.

What causes neurofibromatosis?

Half of all people affected by neurofibromatosis have inherited it from a parent who has the condition, while others will be the first person in their family to have it.

How is neurofibromatosis diagnosed?

Neurofibromatosis is usually diagnosed in childhood. If a doctor sees several signs indicating someone has neurofibromatosis, they will refer them to a specialist for further testing.

Prenatal genetic testing is possible if neurofibromatosis is known to run in the family.

How is neurofibromatosis managed?

Neurofibromatosis can’t be cured, but any symptoms that arise can be treated or managed. Regular medical attention may be required throughout childhood and into adulthood, particularly if tumours become cancerous, although this is rare.