Neurofibromatosis type 1 

Introduction 

Neurofibromatosis is the general name for a number of genetic conditions that cause tumours to grow along your nerves.

Tumours are swellings formed by a growth of cells. In neurofibromatosis, the tumours are usually non-cancerous (benign).

Neurofibromatosis type 1 (NF1) is the most common type, affecting about one in 3,000 births.

Neurofibromatosis type 2 (NF2), which is much less common, has different symptoms and is caused by changes in different genes, so is covered separately. Read about neurofibromatosis type 2.

What are the symptoms of NF1?

NF1 is a condition you're born with, although some symptoms develop gradually over many years. The severity of the condition can vary considerably from person to person.

In most cases of NF1 the skin is affected, causing symptoms such as:

• pale, coffee-coloured patches (café au lait spots)
• soft, non-cancerous bumps on or under the skin (neurofibromas)

Certain health problems are often associated with NF1, such as learning difficulties. Less commonly, NF1 is associated with a type of cancer known as malignant peripheral nerve sheath tumours.

Read more about the symptoms of neurofibromatosis type 1.

What is the cause?

NF1 is caused by a genetic mutation, which is a permanent change in the DNA sequence that makes up a gene. As a result, the growth of nerve tissue isn't properly controlled.

In half of all cases of NF1, the genetic mutation is passed from a parent to their child. In other cases, the genetic mutation appears to develop spontaneously.

Although genetic tests can be carried out during pregnancy to check if your child will have NF1, most cases are diagnosed after birth from the characteristic symptoms.

Read more about the causes of neurofibromatosis type 1 and diagnosing neurofibromatosis type 1.

How is it treated?

There's currently no cure for NF1. Treatment involves regular monitoring and treating any problems as they occur.

This can involve surgery to remove tumours and improve bone abnormalities, medication to control secondary conditions such as high blood pressure, and therapy for behavioural problems.

In many cases, careful monitoring and treatment can help people with NF1 live a full life. However, there's a risk of developing serious problems such as certain types of cancer, which can reduce life expectancy in some people by up to 15 years.

Read more about treating neurofibromatosis type 1.

The Neuro Foundation

The Neuro Foundation is a UK charity that aims to improve the lives of people with neurofibromatosis (either type 1 or type 2).

For more information, you can visit The Neuro Foundation, call its helpline on 020 8439 1234, or email info@nfauk.org.

Information about you

If you or your child has NF1, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.