Nf2 is a type of neurofibromatosis (Nf). It is also known as Bilateral Acoustic Nf (BAN).

Neurofibromatosis is a condition that mainly affects the skin and nervous system. It causes non-cancerous tumours to grow on the nerves around a person’s body.

Neurofibromatosis affects both boys and girls of all ethnic groups. Nf2 affects one person in every 40,000.

What causes Nf2 and who can get it?

Neurofibromatosis is a genetic condition (this means that it is caused by a change in a gene). Nf can be passed down from one your parents or sometimes the gene that causes Nf changes for no known reason. If you have one type of Nfit will not change to the other.

What are the signs and symptoms of Nf2?

Nf2 is generally more serious than Nf1. Nf2 involves the tumours (which are known as neuromas) growing deeper within the body. Most people with Nf2 do not have the brown marks found on the skin in Nf1.

Common symptoms include:

One of the first signs of Nf2 is a gradual loss of hearing caused by an acoustic neuroma (a tumour on the nerves to the ear). This usually happens when a person is in their late teens or early twenties. Some people also notice that they have a ringing or roaring noise in their ears.

Neuromas can often grow on the skin, the brain and the spinal cord and these can cause complications. Though brain tumours are usually benign (non cancerous) they can cause pressure to build up within the skull and this can lead to headaches, visual problems, difficulty balancing and epilepsy.

Neuromas on the spinal cord can cause problems in the arms and legs such as:

• Trembling/poor coordination
• Numbness
• Pain
• Weakness

However, if the neuromas affect the spinal cord in your neck they may also cause problems in the face which may make it very difficult to blink, smile or swallow.

Less common symptoms include:

Some people with Nf2 may have plaques on their skin. These are small areas of skin that are very slightly hard. The skin may also be lighter in colour than other nearby areas of skin. These are nothing to worry about, though they may help your doctor to diagnose Nf2.

People with Nf2 may also have one or two café-au-lait spots. These flat birthmarks are the colour of milky coffee for people with fair skin and may be as dark as black coffee for people with dark skin. However, people with Nf2 are unlikely to have as many of these marks as people with Nf1. They may have small, pale areas of skin which may feel hard.

Nf2 can also cause cataracts. A cataract is the clouding over of the lens of your eye. This can make your vision blurry and colours may seem faded. Most cataracts can be treated successfully, though not all cataracts need treatment.

How is it normally diagnosed?

Nf2 isn’t usually diagnosed until a person is in their late teens. However, if someone in your family has Nf2 or you have certain vision problems, your doctor may want to do some tests when you are younger. These tests may be done every few years to see if you have any problems from Nf2. The tests may include an eye examination, a brain scan or a blood test.

Brain and spinal tumours show up on CT Scans and MRI scans so if your doctor suspects that you may have Nf2 you may be asked to have one of these scans.

How is it normally treated?

There is not yet a cure for Neurofibromatosis but it is hoped that an effective treatment will be developed within the next 5-10 years.

Lumps are not usually removed unless they are causing problems or likely to cause problems in the future. However it is important for people with Nf2 to have regular check-ups with their doctor so that any lumps that are likely to cause problems can be found earlier and removed if necessary.

Families with Nf should be able to have genetic counselling and genetic screening may be available to test if your baby will be born with Nf.

Looking forward

Researchers have recently found the gene that causes Nf2 so it is hoped that better treatments, and even a cure, will follow shortly. Advances in surgery have also benefited people with Nf2 making it much easier to live with the condition.

For more help and information

Please contact the Neurofibromatosis Association UK or speak to your doctor.

Last reviewed by Great Ormond Street Hospital: 27 April 2007

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