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What are the Different Neurofibromatosis Symptoms?

By Thomma Grindstaff
Updated May 17, 2024
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Neurofibromatosis symptoms vary, depending on whether a patient has neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) or schwannomatosis. Symptoms of NF1 include the appearance of bumps called neurofibromas on the skin, six or more brown-colored spots on the skin's surface, and deformities of the spine, skull or tibia, which is a bone in the shin. Among symptoms of NF2 are weakness or numbness in the limbs, hearing loss and poor balance. The main symptoms of schwannomatosis are pain and general numbness or weakness that occur throughout the body. Neurofibromatosis is a genetic disease, meaning that it is inherited.

NF1 is the most common form of neurofibromatosis and tends to manifest during childhood. Neurofibromatosis symptoms in children range from cosmetic issues like brown spots on the skin to serious problems such as impaired learning ability and abnormal growth of bones. Sometimes children develop freckled areas in their groins and armpits by the age of five. NF1 causes neurofibromas, benign tumors of the nerves that appear as bumps under a patient's skin. Children who have NF1 are often shorter than average, but have skulls that are larger than normal.

Neurofibromatosis type 2 symptoms usually arise in late adolescence or young adulthood. This type of neurofibromatosis manifests as a result of tumors that develop on cranial nerve number eight, which is important for balance and hearing. Patients who suffer from NF2 experience a gradual loss of hearing and sometimes tinnitus, which is a ringing heard in the ears. Additional neurofibromatosis symptoms associated with NF2 are loss of coordination and balance. With NF2, additional tumors may develop throughout the body, particularly on optic or spinal nerves. Neurofibromatosis symptoms in adults cause problems such as cataracts and weakness, as well as numbness that affect the legs and arms.

The third type of neurofibromatosis, schwannomatosis, was originally thought to be a variant of NF2 but has since been recognized as a type to itself. Onset of schwannomatosis tends to take place when a patient is in his or her 20s or 30s. In its symptomatology, schwannomatosis is similar to NF2 in that it can cause tumors to grow on spinal, optic and peripheral nerves, but unlike NF2, it does not affect cranial nerve number eight and so does not cause hearing loss. Schwannomatosis is so named because it causes the development of schwannomas, tumors that grow on nerves and sometimes get large enough to displace those nerves, causing chronic pain throughout a patient's body. Additional neurofibromatosis symptoms associated with schwannomatosis include weakness, numbness and tingling in a patient's toes and fingers.

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