neurofibromatosis type 1

A condition that affects the development and growth of neurons (nerve cells) and causes non-cancerous (benign) tumours called neurofibromas to grow on nerves.

Neurofibromatosis type 1 is caused by a mutation (change) in the NF1 gene. This mutation can be inherited , or it can occur spontaneously without any family history.

Neurofibromatosis type 1 is usually diagnosed in children. People with neurofibromatosis type 1 may have abnormalities in their muscles, bones and skin. It can also increase the risk of cancerous tumours, including soft tissue sarcoma and neuroendocrine tumours, as well as cancers of the brain, breast, ovaries and skin.

Sometimes also called von Recklinghausen disease.