What is neurofibromatosis?

Neurofibromatosis is a group of genetic conditions characterised by the growth of neurofibromas (swellings around your nerves). These are a type of tumour that are usually benign (non-cancerous), although in rare cases they can be cancerous. These neurofibromas can form wherever there are nerves in your body.

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

What are the types of neurofibromatosis?

There are 3 main types of neurofibromatosis:

1. neurofibromatosis type 1 (NF1 — or von Recklinghausen disease)
2. neurofibromatosis type 2 (NF2)
3. schwannomatosis

Neurofibromatosis type 1 is the most common form of neurofibromatosis. It affects about 1 in 3000 people in Australia. It’s caused by a change in a gene on chromosome 17.

Neurofibromatosis type 2 is a very rare form of the disease. Only about 1 in 25,000 people have it. It’s caused by a change in a gene on chromosome 22.

Schwannomatosis is the rarest form of neurofibromatosis. It affects less than 1 in every 40,000 people. It causes tumours to form on nerves in the spine.

What are the symptoms of neurofibromatosis?

The signs and symptoms of neurofibromatosis differ from person to person. They also depend on the type of neurofibromatosis you have.

Neurofibromatosis type 1

The main features of NF1 are:

• café au lait spots — harmless coffee-coloured skin patches
• freckling in your armpits or groin
• neurofibromas — these increase in number and size from puberty
• lisch nodules — small freckles on your iris (the coloured part of your eye)

While most people have 1 or 2 café au lait spots, people with NF1 have 6 or more spots. These develop before the age of 5 years.

Neurofibromatosis type 2

In NF2, the benign tumours usually develop in the ears. But they can also be found in the spinal cord and brain.

Symptoms can include:

• headaches
• hearing loss
• swallowing and voice problems
• balance problems
• vision loss

The symptoms are usually caused by tumour growth or the medicines to manage them.

Schwannomatosis

Symptoms usually begin between the ages of 30 years and 60 years. But they can start at any age.

The most common symptom is chronic pain, which can occur anywhere in your body.

Other symptoms can include:

• numbness or tingling
• weakness
• headaches
• vision changes
• swollen areas under your skin

What causes neurofibromatosis?

Half of all people affected by neurofibromatosis have inherited it from a parent who also has the condition.

Or you may be the first person in your family to have it.

When should I see my doctor?

See your doctor if you’re concerned that you or your child may have neurofibromatosis.

How is neurofibromatosis diagnosed?

Neurofibromatosis type 1 and 2 are usually diagnosed in childhood. Schwannomatosis is usually diagnosed in people over the age of 30 years.

Your doctor will talk to you about your concerns and examine you.

If your doctor thinks that you have neurofibromatosis, they will refer you to a specialist for further testing.

How is neurofibromatosis treated?

Neurofibromatosis can't be cured, but any symptoms that arise can be treated or managed.

People with neurofibromatosis should regularly see their doctor. For young children this should be every 6 to 12 months. For older children this may be once a year.

Complications of neurofibromatosis

Neurofibromatosis can cause symptoms anywhere in your body. The best way to limit complications is through regular check ups.

Resources and support

The Children's Tumour Foundation provides care and support for people with NF and their families.

Check out Healthdirect’s guide to genetic disorders page to learn more about genetic diseases and where to go for help.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.