Neurofibromatoses are a group of genetic disorders that cause tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord, and nerves. There are three main types of neurofibromatosis: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is typically diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood.
The tumors in these disorders are usually noncancerous (benign), but they can sometimes become cancerous (malignant). Symptoms are often mild, but complications can include hearing loss, learning impairments, cardiovascular issues, vision loss, and severe pain. Neurofibromatosis treatment focuses on promoting healthy growth and development in children affected by the disorder and managing complications early. When neurofibromatosis causes large tumors or tumors that press on nerves, surgery can alleviate symptoms. Other therapies, such as stereotactic radiosurgery or medications to control pain, may also be beneficial. Recently, a new medication has been developed to treat tumors in children, and additional treatments are in progress.
