Neurofibromatosis type 1 : the facts

NF-1 is a condition characterised by changes in skin colouring and the growth of tumours along nerves in the skin, brain, and other parts of the body.

The signs and symptoms vary widely amongst those affected.

Beginning in early childhood, almost all sufferers of NF-1 have multiple coffeecoloured spots on the skin. These spots increase in size and number, as the individual grows older.

Most adults with NF-1 develop neurofibromas, which are benign tumours, usually on or under the skin. People with the condition have an increased risk of developing other cancers, including brain tumours and leukaemia. Additional symptoms include high blood pressure, an unusually large head and skeletal abnormalities. Although most have normal intelligence, learning disabilities occur frequently in affected individuals.

There is no cure; instead, symptoms and complications are managed through procedures such as 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 monitoring and treatment can help sufferers live a full life. However, there is a risk of developing problems such as strokes, which can reduce life expectancy by up to 15 years.