Neurofibromatosis is characterised by the growth of neurofibromas, a type of tumour that is usually benign.
Neurofibromatosis is a relatively common genetic condition. The signs and symptoms differ from person to person, depending on what type they have. Neurofibromatosis is not yet curable, but it is a manageable and many people with the condition lead normal lives.
Neurofibromatosis is characterised by the growth of neurofibromas. These are a type of tumour that is usually benign, or non-cancerous, although occasionally they can be cancerous. These neurofibromas can form wherever there are nerve cells in the body.
Half of all people affected by neurofibromatosis have inherited it from a parent who has the condition, while others will be the first person in their family to have it.
In NF1, benign tumours commonly grow on the skin. A common feature of NF1 is café au lait spots, which are harmless coffee-coloured skin patches. Most people have one or two of these spots, but people with NF1 always have six or more. In NF1, tumours can also appear on the optic nerve and on the iris in the eye. These tumours might or might not affect your vision.
In NF2, the benign tumours usually develop in the ears, but they can also be found within the spinal cord and brain. Symptoms can include hearing loss and problems with swallowing, speech, balance and eye movements.
Neurofibromatosis is usually diagnosed in childhood. If a doctor sees several signs indicating someone has neurofibromatosis, they will refer them to a specialist for further testing. Prenatal genetic testing is possible if neurofibromatosis is known to run in the family.
Neurofibromatosis can't be cured, but any symptoms that arise can be treated and/or managed. Regular medical attention may be required throughout childhood and into adulthood, particularly if tumours become cancerous, though this is rare.
The Children's Tumour Foundation provides care and support people with NF and their families.