Video - Neurofibromatosis

Neurofibromatosis is a genetic disorder characterized by fibrous tumors that affect the development and function of the nervous system. There are three known types of neurofibromatosis: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.

NF1 is due to a mutation in the NF1 gene on chromosome 17, and generally affects the skin and extremities. NF1 causes cutaneous neurofibromas (benign tumors that grow from the nerve sheath), caf-au-lait spots (flat patches with milky-coffee color), and Lisch nodules (small tan colored bumps). NF2 is caused by a mutation in the NF2 gene on chromosome 22, and is associated with bilateral acoustic neuromas that can cause tinnitus, and bilateral gradual loss of hearing. NF2 is also associated with multiple meningiomas in the brain and spinal cord.

Schwannomatosis is a rare form of neurofibromatosis, characterized by multiple schwannomas, pain, and numbness in the affected areas. Unlike NF2, schwannomatosis spare the vestibular nerve.