Neurofibromatosis Treatment in Bristol, VA
What Is Neurofibromatosis?
Neurofibromatosis is a genetic condition that causes benign (non-cancerous) tumors to form in the nervous system.
There are three types of neurofibromatosis:
- Neurofibromatosis type 1 (NF1)
- Neurofibromatosis type 2 (NF2)
Each type of neurofibromatosis has different symptoms, which may include hearing loss, bone defects, and severe pain. Neurofibromatosis can be burdensome, but fortunately, treatment like surgery and radiation is available. To schedule your consultation with a neurofibromatosis specialist in Bristol, call (423) 482-8711 or contact AWAREmed Health and Wellness Resource Center online!
It has been determined that neurofibromatosis is genetic and may be heritable; children of an NF1 or NF2 patient have a 50% chance of having the disease, and the same is true of some cases of schwannomatosis.
Different mutations have been found to cause the different types of neurofibromatosis:
- NF1 is caused by mutations in the NF1 gene
- NF2 is caused by mutations in the NF2 gene
- Not all of the mutations that cause schwannomatosis have been identified, but genes that are often mutated in this disease include SMARCB1, LZTR1, and NF2
While the details of how the causative mutations occur are not yet fully clear, it is known that some of the genes that cause neurofibromatosis—namely NF1, NF2, and SMARCB1—are tumor suppressor genes. When functioning normally, these genes prevent cells from growing and dividing too much. When these genes are mutated, tumors form due to out-of-control cell growth and division. The function of LZTR1 is not yet known.
Symptoms of neurofibromatosis vary depending on the type.
NF1 ordinarily appears in childhood, and symptoms may include:
- Flat, brown spots on the skin, called café au lait spots due to their coffee color
- Excessive freckling in armpits and/or groin
- Tiny bumps on the irises (Lisch nodules)
- Soft bumps on or under the skin (neurofibromas)
- Bone defects like curved spine (scoliosis)
- Tumor growth on the optic nerve (optic glioma)
- Developmental disabilities like ADHD and dyscalculia
- Larger than average head size
- Shorter than average stature
In rare cases, NF1 neurofibromas can develop into malignant peripheral nerve sheath tumors, which are cancerous. These can form anywhere in the body, but are most likely to occur deep in the trunk, arms, and legs. These tumors may cause pain and weakness in the affected body part.
NF2 symptoms commonly develop during the late teen years. They are often caused by slow-growing tumors called acoustic neuromas or vestibular schwannomas, which grow on the nerve that sends signals from the inner ear to the brain (auditory nerve).
Symptoms are often related to hearing and balance, and may include:
- Café au lait spots
- Soft bumps on or under the skin (neurofibromas)
- Gradual hearing loss
- Ringing, hissing, clicking, or whistling in ears (tinnitus)
- Poor balance
- Numbness or weakness in arms or legs
- Pain in nerves affected by tumors
- Vision problems or development of cataracts
- Facial paralysis
Schwannomatosis symptoms usually manifest after the age of 20 and are caused by tumors developing in various places in the body, but not usually the auditory nerves. Schwannomatosis can cause chronic pain anywhere the tumors occur, as well as numbness and muscle atrophy.
To diagnose neurofibromatosis, a healthcare professional will review your medical history as well as your family history. NF1 can often be diagnosed by the appearance of café au lait spots, and observation of those spots may also be an important part of NF2 diagnosis.
Scans that may be performed to diagnose neurofibromatosis may include:
- Eye exam to detect Lisch nodules in NF1 patients and cataracts in NF2 patients
- Ear exams such as measurement of hearing sensitivity (audiometry) and testing for involuntary eye movements (electronystagmography) to check for hearing and balance problems characteristic of NF2
- Imaging tests like X-ray, CT scan, or MRI to identify tumors
- Genetic tests for NF1 and NF2
As neurofibromatosis may be hereditary, when an adult is diagnosed, a healthcare provider may suggest genetic testing for their children.
Neurofibromatosis is not curable, but it is treatable. If neurofibromas are causing debilitating symptoms, they may be removable with surgery. Neurofibromas in the skin may require plastic surgery if they are particularly unsightly or cause pain. Radiation treatment may also be helpful for shrinking tumors, especially for optic gliomas or acoustic neuromas for which surgery is not a viable option because it could cause further vision or hearing loss.
In the unlikely event that NF1 neurofibromas develop into malignant peripheral nerve sheath tumors, the first thing a healthcare provider is likely to try is surgical removal of the tumors. Radiation and chemotherapy may also be used to treat cancerous tumors.
Treatment for neurofibromatosis symptoms may be unrelated to the tumors; for example, NF1-related scoliosis may be treated with a back brace, and ADHD may be addressed with medication. Neurofibromatosis patients who experience chronic pain may also manage this symptom with medication or non-traditional treatments like acupuncture.
Request Your Appointment Today
There is no need to suffer from neurofibromatosis. For more information on treatment or to make an appointment with a neurologist in Bristol, call (423) 482-8711 or contact AWAREmed Health and Wellness Resource Center online!
Frequently Asked Questions
What are the three types of neurofibromatosis?
The three types of neurofibromatosis are type 1, type 2, and schwannomatosis. Type 1 neurofibromatosis is characterized by skin pigmentation changes and the growth of tumors along nerves throughout the body. Type 2 neurofibromatosis involves growth of tumors primarily along the nerve that runs from the inner ear to the brain (auditory nerve), but also other nerves. Schwannomatosis is characterized by the growth of nervous system tumors that start in the cells protecting the nerves.
How common is neurofibromatosis?
That depends on the type of neurofibromatosis. Type 1 neurofibromatosis can be found in about 1 in 3,000 people. Type 2 neurofibromatosis is rarer, occurring in about 1 in 33,000 people. The incidence of schwannomatosis is unknown, but is very rare; estimates range from between 1 in 40,000 people to 1 in 1.7 million people.
How do you detect neurofibromatosis?
NF1 may be diagnosable based on presence of café au lait spots alone. Other methods of detecting neurofibromatosis may include eye and ear exams, scans, and genetic testing.
Is neurofibromatosis contagious?
No, neurofibromatosis is not contagious, but it can be passed genetically from parent to child.
What is the life expectancy of a person with neurofibromatosis?
If cancer does not develop, patients with NF1 have a nearly normal life expectancy. Schwannomatosis is similarly associated with a nearly normal life expectancy. Because the much rarer NF2 type results in tumors on the brain and spinal cord that can stress the body and be difficult to treat, the disease can shorten lifespan by an average of about 10 years.
Is neurofibromatosis a cancer?
Neurofibromatosis is not a cancer if the tumors are benign (not cancerous). However, in a small percentage of patients with type 1 neurofibromatosis, tumors become cancerous, turning into malignant peripheral nerve sheath tumors.
Is neurofibromatosis life-threatening?
On its own, neurofibromatosis is not life-threatening. In extremely rare cases, type 1 neurofibromatosis tumors can develop into cancer, which may be serious.
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