Neurofibromatosis

It is caused by mutations in specific genes that regulate cell growth and division, leading to the formation of tumours called neurofibromas on or along the nerves. There are three main types:

• Neurofibromatosis type 1 (NF1): the most common type, caused by mutations in the NF1 gene. Symptoms vary widely and may include multiple neurofibromas, skin pigmentation changes (café-au-lait spots), freckling in the armpits or groin, optic pathway gliomas, bone abnormalities and an increased risk of learning disabilities.
• Neurofibromatosis type 2 (NF2): a less common form caused by mutations in the NF2 gene. It primarily results in the growth of non-cancerous tumours on the nerves that supply the hearing and balance functions of the inner ear, which can lead to hearing loss, balance problems and other neurological issues.
• Schwannomatosis: the rarest form, characterised by the development of multiple schwannomas — tumours that grow on the covering of the nerves. It typically causes pain, rather than the neurological deficits seen in NF1 and NF2.

Neurofibromatosis can vary greatly in severity and symptoms between individuals. There is currently no cure, but treatment aims to manage symptoms and complications. Individuals with neurofibromatosis often benefit from lifelong monitoring and care by a multidisciplinary team of healthcare providers.