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May is Neurofibromatosis Awareness Month
Neurofibromatosis
Neurofibromatosis (NF) is a genetic disorder that causes tumors to form throughout the body. It is progressive and is one of the most common genetic diseases in the United States. Although neurofibromatosis is not a cancer, some forms of NF can be associated with certain malignancies.
Neurofibromatosis encompasses three distinct disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. Each type is characterized by tumors along the peripheral nerves, and symptoms that are different for each disorder.
- Neurofibromas, most often seen in patients with NF1, appear as multiple, rubbery lumps on or under the skin. They may be painful or itchy, but many do not cause any other symptoms.
- Vestibular schwannomas are most common in patients with NF2. These tumors affect the nerves of the inner ear and disrupt hearing and balance.
- Schwannomatosis is associated with painful tumors called schwannomas that can cause pain, tingling and weakness.
Both NF1 and NF2 are genetic conditions that affect nerve tissue, but NF1 and NF2 have different symptoms. NF1, far more common than NF2, is characterized by brownish cafe-au-lait spots on the skin and tumors called neurofibromas. NF1 can also cause deformity of bones and has several other manifestations. The abnormal nerve growths of NF2 more frequently affect the nerves inside the skull and spine, and common symptoms include problems regarding hearing, balance and control of facial muscles.
Signs of neurofibromatosis type 1 may be present soon after birth, and some signs, such as cafe-au-lait spots, can be present at birth. Neurofibromas most often appear in children between the ages of 10 to 15. The signs and symptoms of NF2 and schwannomatosis are rare in children and usually appear in people in their 20s or 30s.
Neurofibromatosis disorders are often diagnosed by a doctor’s examination of the patient and genetic testing. After a careful history and examination, the doctor may order several tests including the following.
- MRI
- Electromyography (EMG)/nerve conduction study (NCS), to measure electrical pathways in the nerves.
- A biopsy, so that a pathologist can diagnose a neurofibroma or schwannoma by looking at a piece of the tumor under a microscope.
Mild cases of NF1, NF2 and schwannomatosis do not cause severe problems, and affected people may require no treatment beyond observation and regular checkups and symptom management. Children born with neurofibromatosis should be monitored by their doctor, who can help detect complications such as hearing problems, bone deformities and changes to skin lesions.
For more information on neurofibromatosis, read here.
