What Is Neurofibromatosis?
The abnormal growths from these conditions are usually benign, meaning they’re unlikely to spread. However, certain types of neurofibromas can become cancerous. Neurofibromatosis type 1 may also increase the risk of developing gliomas (a different kind of tumor), especially in children.
The most common neurofibromatosis symptoms are:
- Neurofibromas. These rubbery lumps under the skin are most common with neurofibromatosis type 1. They may be itchy or painful but typically don’t cause other symptoms.
- Vestibular schwannomas. These tumors are most common in neurofibromatosis type 1. They affect inner ear nerves, causing hearing and balance problems.
- Schwannomas. These tumors cause weakness, tingling, and pain.
Neurofibromatosis can also produce:
- Groups of freckles in skin folds and creases, under the arms, and in the groin area
- Tiny bumps on the colored part of the eye (iris) called Lisch nodules
- Groups of six or more tan or brown “cafe-au-lait” spots on the skin
Children with neurofibromatosis type 1 may have mild learning disabilities, short stature, and larger-than-average head size.
Differences Between Neurofibromatosis Type 1 and Neurofibromatosis Type 2Neurofibromatosis type 1 is more common than neurofibromatosis type 2. Type 1 causes cafe-au-lait spots and tumors called neurofibromas. It can also manifest in other ways, including causing bone deformities.
Type 2 more often affects nerves in the skull and spine, causing hearing loss, balance and coordination problems, and loss of control of facial muscles.
How Is Neurofibromatosis Formed?Gene defects (mutations) cause neurofibromatosis. These mutations can be passed from parents to children or occur at conception in children whose parents don’t carry the gene defect.
The affected genes have functions like regulating cell growth and suppressing tumors. When those actions are disrupted, neurofibromatosis can develop.
How Is Neurofibromatosis Diagnosed?
Physicians perform a physical exam as the first step in diagnosing this condition. If your doctor suspects you have neurofibromatosis, they can order tests, including:
- Magnetic resonance imaging (MRI)
- Electromyography (EMG) or nerve conduction study (NCS) to assess the electrical pathways in nerves
- Biopsy (viewing a small tissue sample under a microscope)
If neurofibromatosis tests confirm you have the condition, treatment depends on symptom severity.
Neurofibromatosis TreatmentNeurofibromatosis is mild in some instances and may not cause severe problems. People with mild cases may not require treatment other than regular checkups and symptom management if needed. Observation is especially important for children with neurofibromatosis so that interventions can be provided if problems like hearing loss or bone deformities occur.
There’s no approved medication for treating neurofibromatosis. However, teams of genetic specialists, neurologists, and surgeons can help patients minimize their symptoms. This includes eliminating neurofibromas or schwannomas with surgery or radiation if they’re affecting neurological function, causing pain, or growing rapidly. Removing tumors can provide relief, but recurrence is possible.
Get Help with Neurofibromatosis from Baptist HealthIf you have neurofibromatosis or are experiencing symptoms that lead you to believe you do, Baptist Health can help. Your primary care physician can work with our neurology experts to diagnose and treat your condition.
Whether it’s surgery for neurofibromatosis type 1, nursing interventions for neurofibromatosis type 2, or some other type of care, we can help minimize your pain, neurological impairment, and other symptoms.