Neurofibromatosis is a genetic disorder that causes tumours to grow on nerves throughout the body. 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.

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There are three main types of neurofibromatosis:

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1. Neurofibromatosis type 1 (NF1): This is the most common type of neurofibromatosis and is caused by mutations in the NF1 gene. Symptoms of NF1 can vary widely and may include multiple neurofibromas, skin pigmentation changes (cafe-au-lait spots), freckling in the armpits or groin, optic pathway gliomas, bone abnormalities, and increased risk of learning disabilities.

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2. Neurofibromatosis type 2 (NF2): This less common form of neurofibromatosis is caused by mutations in the NF2 gene. NF2 primarily results in the growth of noncancerous tumours on the nerves that supply the hearing and balance functions of the inner ear. These tumours can lead to hearing loss, balance problems, and other neurological issues.

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3. Schwannomatosis: This is the rarest form of neurofibromatosis and is characterized by the development of multiple schwannomas, which are tumours that grow on the covering of the nerves. Schwannomatosis typically causes pain, rather than neurological deficits like NF1 and NF2.

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Neurofibromatosis can vary greatly in severity and symptoms among individuals. There is currently no cure for neurofibromatosis, but treatment is aimed at managing symptoms and complications associated with the disorder. Individuals with neurofibromatosis often benefit from lifelong monitoring and care by a multidisciplinary team of healthcare providers.