Neurofibromatosis is the general term used to describe a genetic disorder that affects the nervous system (brain and spinal cord) and the skin. It causes non-cancerous tumours to grow on nerves throughout the body.
The term neurofibromatosis actually describes two completely different diseases that share similar features:
- type 1 neurofibromatosis (Nf1) - also known as von Recklinghausen's disease or peripheral neurofibromatosis, and
- type 2 neurofibromatosis (Nf2) - also known as bilateral neurofibromatosis.
As these are distinct diseases with different causes, they will be described separately and referred to as Nf1 and Nf2.
What are the symptoms?
The tumours that grow on the nerves cause different problems, which depend on the type of neurofibromatosis as well as the number, size and location of the tumours (see Symptoms page).
For some people, Nf1 is little more than a skin condition and they do not experience related medical problems. However, complications are quite common and can occasionally be serious (see Complications page).
The symptoms of Nf2 are more serious. Tumours develop on nerves deeper inside the body. The most common symptom is a tumour that develops on the nerve to the ear. This is called acoustic neuroma (see Useful links) and causes a gradual loss of hearing.
What is the cause?
Both types of neurofibromatosis are caused by a mutation (change) in a gene. The gene can be inherited from your parents or it may spontaneously change for no reason.
Who is affected?
Both types of neurofibromatosis are equally common in men and women, and affect all ethnic groups equally.
How common is neurofibromatosis?
Nf1 is the most common type of neurofibromatosis. In the UK, about one in every 2,500 babies are born with Nf1, making it one of the most common genetic disorders.
One in 35,000 babies in the UK are born with Nf2.
What is the outlook?
There is no cure for neurofibromatosis, but any medical problems caused by the condition can be treated (see Treatment page).
Genetic screening and counselling is available for families with a history of neurofibromatosis (see Diagnosis page).
