Neurofibromatosis is the name for a number of genetic conditions. It causes multiple tumours that affect the nervous system.
Tumours are abnormal tissue growths. In neurofibromatosis, the tumours are usually non-cancerous, or benign.
Types of neurofibromatosis
There are two main types of neurofibromatosis:
- Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis, occurring in about 1 in 3,000 people.
- Neurofibromatosis type 2 (NF2) is the least common type of neurofibromatosis, occurring in about 1 in 25,000 people.
Despite sharing the same name, the two types of neurofibromatosis are separate conditions that have different causes and symptoms.
This section is about neurofibromatosis type 1.
Find out more about neurofibromatosis type 2.
Symptoms
Neurofibromatosis type 1 (NF1) is a condition that you are born with, although some symptoms develop gradually over many years. Some of the more common symptoms affect the skin and are present at birth or develop by around the age of three.
Some people with NF1 have symptoms that only affect their skin, such as:
- pale, coffee-coloured patches with smooth outlines, known as café au lait spots
- soft bumps that develop on or under the skin, known as neurofibromas
Skin neurofibromas are not cancerous.
Other people with NF1 have a range of health problems, including:
- high blood pressure
- an abnormally curved spine (scoliosis)
- a type of cancer known as malignant peripheral nerve sheath tumours, which affects around 10% of people with NF1
How the symptoms develop can vary greatly from person to person, even among two members of the same family with NF1.
Around 60% of people with NF1 also have learning difficulties, which are usually mild to moderate.
Read more about the symptoms of neurofibromatosis type 1.
Causes
NF1 is caused by a genetic mutation. This is where the instructions that are carried in all living cells become scrambled in some way. As a result, one or more of the body’s processes do not work correctly.
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 on its own. This is medically known as a new mutation.
Read more about the causes of neurofibromatosis type 1.
Treatment
There is currently no cure for NF1. Treatment aims to manage the various symptoms.
This can involve surgery to remove the tumours that have become troublesome or unsightly, and medication to control secondary conditions such as high blood pressure.
The condition will also need to be monitored with regular check-ups. This is because of the risk of developing conditions such as high blood pressure or cancer.
Read more about treating neurofibromatosis type 1.
Who is affected?
NF1 affects around 1 in every 3,000 babies born each year in England. Both sexes and people of all ethnic backgrounds are equally affected by the condition.
Outlook
The outlook for NF1 depends on an individual's symptoms. If symptoms are mainly confined to the skin, the outlook is usually good and the person’s lifespan should not be affected.
The outlook can be worse if a person develops high blood pressure (a leading cause of heart attacks and strokes) or cancer. These are both leading causes of premature death in people with NF1.
However, due to advancements in treatment, most people with NF1 can expect to live to around 60 to 70 years of age.
