Neurofibromatosis Dr Trisha Macnair Dr Rob Hicks A genetic disorder that can affect the skin and nervous system, typically in adolescence.

In this article

What is neurofibromatosis (NF)? Symptoms

Causes and risk factors Treatment and recovery

NF is a neurocutaneous disorder meaning that it affects the skin and the nervous system (including the brain). Soft, non-cancerous tumours (neurofibromas) develop on the skin and along nerve tissue throughout the body. However, virtually every system and organ in the body may be affected. .

There are two main types, NF1 (also known as Von Recklinghausen's disease or peripheral NF) and NF2 (also known as bilateral acoustic NF). NF1 is much more common.

In NF1, symptoms usually appear in early childhood. A telltale sign is the presence of coffee-coloured birthmarks known as 'cafe-au-lait' spots. They are present at birth but increase in size, number and pigmentation, especially during the first few years of like.

Neurofibromas (soft, small rubbery lesions) typically appear during adolescence. Usually they involve the skin but they may appear along nerves and blood vessels. They can cause problems is they squash a nerve (for example, problems with vision and hearing).

Other features that can occur, include high blood pressure, curvature of the spine, kidney problems, large head, short stature, epilepsy and speech problems. Some affected children have learning difficulties. There is also an increased risk of certain cancers.

NF2 is much more rare. Cafe-au-lait spots and skin neurofibromas are much less common in NF2. Bilateral acoustic neuromas are the most distinctive feature of NF2.

The lumps grow on the acoustic nerve, leading to symptoms of hearing loss, facial weakness, headache or unsteadiness. (Bilateral means that it affects both sides.).

Generally the condition presents in childhood although occasionally it may present your 20s. There is also an increased risk of certain cancers in NF2.

About one in 4000 babies born in the UK has NF1 and about one in every 50,000 has NF2. Men and women are equally affected.

The abnormal gene may be inherited from one parent who has NF or may arise from a spontaneous gene mutation. Both forms of NF are inherited in an autosomal dominant fashion, meaning that if you have the disease you have a 50% chance of passing it on to each of your children. Many cases are new mutations

There's no cure for NF but the Neurofibromatosis Association is optimistic that there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counselling is available.

Most people don't need any treatment but surgery may be necessary to remove some tumours (such as acoustic neuromas or brain tumours) and this can cause complications such as facial paralysis.

Treatment for complications such as epilepsy is given as appropriate. Vision and hearing are regularly tested. Special education is provided for those children with learning difficulties.

This article was last medically reviewed by Dr Orlena Kerek in March 2009