Neurofibromatosis (NF) is an unpredictable, progressive disorder that causes tumors to form in the nervous system, specifically in and around nerve cells. These tumors can show up anywhere, including the brain, spinal cord, adrenal gland, eyes and muscle tissue.
While neurofibromatosis tumors are usually benign, they can pose health risks. Some tumors can lead to disfigurement. Growths on or near the spinal cord and surrounding nerves can cause to paralysis. In about 10% of cases, these tumors become malignant cancers. For patients whose tumors pose serious health risks, early detection is key.
What are the types of neurofibromatosis?
Neurofibromatosis itself is actually a collection of three genetic disorders. Each disorder can be inherited from a parent or be a new, random mutation that exists in every cell’s DNA. In both cases the condition can be passed down to the patient’s children.
Approximately 100,000 Americans have an NF disorder. The most diagnosed type, NF1, affects around 1 out of every 3,500 births. Most NF1 patients have mild to moderate symptoms, but it is a progressive disorder that can lead to disfigurement, skeletal abnormalities and learning disabilities.
NF2 is much rarer than NF1 and is characterized by tumors on the vestibular nerve.
NF2 brings an increased risk of other types of nervous system tumors and may cause severe vision problems.
Schwannomatosis is also very rare. It is defined by the presence of multiple schwannomas (tumors that grow around nerves without involving the skin or other organs) everywhere in the body except on the vestibular nerve.
What a re the risk factors for neurofibromatosis?
Neurofibromatosis is caused by one of three genetic mutations that are either inherited from a parent or that seem to develop randomly in an individual. People with one of these mutations will develop the disorder. There are no steps that can prevent the disease.
Children with one parent with neurofibromatosis have a 50% chance of inheriting the gene and developing the disease. Individuals with the disease should get genetic counseling for themselves and for their children.
Neurofibromatosis is a genetic condition that runs in families. If you have neurofibromatosis, or if you have a family history of the disease, we recommend genetic counseling. Visit our genetic testing page to learn more.
What are the symptoms of neurofibromatosis?
Neurofibromatosis type 1
This is the most common form of neurofibromatosis. Its symptoms include:
- Six or more brown spots (know as cafe-au-lait spots) on the skin measuring more than 5 millimeters in children and more than 15 millimeters in adolescents
- Two or more neurofibromas (slow-growing tumors of the nervous system) or one plexiform neurofibroma (peripheral nerve tumor), which can cause disfigurement
- Freckling in armpit or groin areas
- An optic glioma, a type of tumor affecting the optic nerves or where the nerves cross
- Two or more growths on the iris of the eye, known as Lisch nodules
- Skeletal or spinal abnormalities such as scoliosis or thinning of the shin bone
- Family history of NF1
- Larger than normal head circumference
- Higher-than-normal rates of epilepsy
- Higher-than-normal rates of ADHD and learning disabilities.
Some of these symptoms, like Lisch nodules and freckling, can be seen at birth. NF1 almost always appears by the time a person is 10 years old.
Neurofibromatosis type 2
NF2 is distinguished by tumors that grow on the hearing nerves. This can lead to partial or complete deafness, a ringing in the ears or balance problems. The disease usually manifests between the ages of 18 and 22.
Schwannomatosis
This form of the disease is genetically distinct from NF1 and NF2. It has only recently been recognized as a separate condition, so not as much is known about it. This condition results in growths known as schwannomas, a type of benign nerve cell tumor. These growths can occur anywhere on the body except on the vestibular nerve, a nerve in the inner ear that is important to balance. Schwannomatosis can result in sometimes-serious pain caused by the growths pressing on nerves and surrounding tissue.
How is neurofibromatosis diagnosed?
Our specialists diagnose neurofibromatosis primarily by giving a thorough physical exam. In addition, we have experts that conduct special genetic testingand/or perform MRI and CT scans for more complex cases. After a complete assessment, physicians are able to better determine the risk for tumor development in the patient. The Children's Cancer Hospital also provides a pediatric neuropsychologist to determine any learning disabilities the patient may be facing.
Second opinions at MD Anderson
The physicians at MD Anderson are highly specialized in diagnosing and managing neurofibromatosis and cancers caused by the condition. We welcome the opportunity to provide second opinions.
If you would like to get a second opinion at MD Anderson, call 855-977-4840 to make an appointment or request an appointment online.
What are the treatment options for neurofibromatosis?
Our approach
Neurofibromatosis patients can face many complications, including hearing and vision problems, learning disabilities and pain caused by tumors. It’s important for patients to get their care from a team of experts who can handle all of these challenges.
That’s where MD Anderson can help. For children with NF, we have a program that works with schools to develop an educational plan and find ways to help them learn. Adults and children both can see specialists in treating tumors that affect the eyes and the ears, as well as surgeons who can operate on tumors on practically any part of the body. We also have specialist in managing NF-related pain and we offer genetic counseling for adult NF patients who want to start a family.
And if a tumor does become cancerous, our NF patients have access to all the care at one of the nation’s top cancer centers.
Neurofibromatosis treatment
Neurofibromatosis is a progressive disease. Patients need to be monitored on an ongoing basis to manage their specific symptoms. Treatment for the diseases depends on the location and type of tumor(s) present.
- For growing pediatric brain tumors, the standard treatment is chemotherapy, but surgery and radiation may also be required.
- Peripheral nerve and spinal tumors are treated with surgery, and malignant nerve and spinal tumors are treated with a combination of surgery, radiation and chemotherapy.
- Treatments of bones of the arms and legs and for scoliosis is managed by our Orthopaedic Center.
- NF-related growth disorders are seen by our endocrine service.
- Other, less frequent issues are managed by specialists throughout the hospital.
Since NF is often diagnosed in children, the Children's Cancer Hospital has developed a program that gives these patients with educational support. The Children's Cancer Hospital also provides a pediatric neuropsychologist to determine any learning disabilities the patient may be facing.
The most innovative treatments for neurofibromatosis are offered as part of clinical trials, which are closely monitored studies to test the safety and effectiveness of new treatments. You can also visit our clinical trials database or speak to your doctor to see if you or your child are eligible.
Why choose MD Anderson for your neurofibromatosis care?
At MD Anderson we offer customized neurofibromatosis care aimed to help patients live full, active lives. We utilize the most advanced treatments and techniques that offer the best possible outcomes for both pediatric and adult patients.Comprehensive care
Because neurofibromatosis is rare, most physicians have little experience treating it. MD Anderson has one of the largest comprehensive neurofibromatosis programs in the nation. This can make a difference in you or your child's care and quality of life.
As part of a comprehensive cancer center, our neurofibromatosis program can offer the full range of services neurofibromatosis patients may need. We partner with oncologists and surgeons, including teams in neuro-oncology and sarcoma care, to offer the most up-to-date therapies and procedures. We also work with reconstructive surgeons to remove skin tumors and tumors around the eye. And we provide a comprehensive academic/school assessment and intervention program for children with NF and learning disabilities - the first such program in the world.
We appreciate everything, we focus on what matters, and we don't take anything for granted.
I first became an MD Anderson patient more than 28 years ago, at age 4. But, I’ve never had cancer.
I was born with a genetic disorder called neurofibromatosis. Like cancer, it has no cure. Unlike cancer, remission is not possible, as it is an inherited disease. But just knowing that MD Anderson does such great work beyond cancer is important. Its doctors, nurses and other medical professionals have saved my life repeatedly.
Living with neurofibromatosis: what it’s like
Neurofibromatosis tends to be different than cancer, in that it progressively impacts every aspect of the body — inside and out — for life. It also affects each person in vastly different ways. Bone deformities, learning disabilities and tumors, for example, are typical, but not necessarily universal.
In my case, I’ve had six surgeries for tumors so far. Three of those were considered major surgeries, and two were life-threatening. As a child, I took daily growth hormone shots for a decade — otherwise, I would still be the height of a kindergartner. I currently take 16 different medications, with some for my eyes, heart and stomach. I have physical limitations and must always wear a brace on my right leg. I have an ever-growing number of neurofibromas (basically little bumps) on my skin. I’m dyslexic.
Almost everything about my experience has been unusual, even for someone with neurofibromatosis. I’m at MD Anderson for blood draws, scans and checkups at least half a dozen times a year — and that’s when I can get multiple appointments on one day and when I’m not having surgery.
Things to remember about neurofibromatosis — and other diseases and disorders
Just as many cancer patients do, we neurofibromatosis patients sometimes deal with chronic pain and invisible disabilities. I’ve had very few pain-free days. My tolerance has grown since the early 1990s, so migraines or intense leg pains don’t always faze me.
Because of the many medications I’m already taking, sometimes I try to “tough it out.” But then, I remember that taking action will make me feel much better, so I do.
We all need to be reminded that pain doesn’t have to be normal when prescriptions or over-the-counter medications can help alleviate it. We also need to be reminded that we don’t know how someone else feels or what they are going through, unless they tell us.
Beating the odds, despite a neurofibromatosis diagnosis
Because of my ongoing medical problems, people have sometimes doubted me. Some even told me that getting a doctorate and becoming a professor would be impossible, because getting even a basic college degree might be too hard for me.
Yet, here I am, a 6’5” professor at the University of Houston and a published author with a Ph.D. in history. (I will be forever grateful to MD Anderson’s Children’s Art Project for providing $23,000 in scholarships to help pay for my four college degrees.)
The lesson here is that at the end of the day, you are your own best advocate. So, always stand up for yourself, always take chances, and you, too, can achieve the impossible.
Request an appointment at MD Anderson online or by calling 1-877-632-6789.
