Our multi-disciplinary neuroscience team can diagnose neurofibromatosis and treat complications of the condition

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Neurofibromatosis are genetic disorders where benign growths affect the nervous system. There are two types:

NF1: this is a “mistake” in the gene on chromosome 17. Complications can vary in severity and to the individual.
NF2: these are benign nervous system tumours in the brain and spine, causing hearing loss, deafness and mobility problems.

Need to know

NF1 can cause a wide-range of symptoms and affect the skin, eyes and development. It also affects the brain, causing migraines and a small risk of brain tumours and epilepsy in children. The most characteristic sign of NF1 is coffee-coloured blotches on the skin called 'café au lait' spots. People with NF1 may also develop peripheral nerve tumours. This is where an existing peripheral nerve tumour becomes cancerous. Symptoms of an MPNST include:

  • an existing neurofibroma growing larger
  • chronic pain
  • finding it hard to breathe
  • weakness, numbness or tingling in the arms and legs
  • urinary and bowel incontinence

Both NF1 and NF2 are diagnosed through physical examinations and tests. Your consultants will discuss your symptoms with you and help to make a diagnosis. They may order a number of tests, including:

  • Imaging tests: these can display brain and spinal cord tumours and bone abnormalities.
  • Genetic tests: it's possible to identify NF1 and NF2 in the womb. Your consultant will give you further information.
While there's no cure for neurofibromatosis, its symptoms and complications can be treated. If peripheral nerve sheaf tumours are pressing down on soft tissue and causing nerve damage, they can be removed through surgery. Cancerous tumours will need further treatment with an oncology team. Your consultant will discuss your treatment options and help to determine the best approach for you.

Patient stories

This content is intended for general information only and does not replace the need for personal advice from a qualified health professional.