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Neurofibromatosis

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Neurofibromatosis

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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.

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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.

Gaylene Meeson

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Brain and Spine Center

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Go ahead, ask: Neurofibromatosis patient invites questions, makes friends

BY Mary Brolley

To those he meets, Reggie Bibbs has but one request. Just ask.

A Houston-based, internationally known activist, Bibbs has neurofibromatosis type 1 (NF 1), a genetic disorder that ranges in severity from almost imperceptible to major.

As such disorders go, NF 1 is common, occurring in about 1 in 3,000 births. The two other forms of NF -- neurofibromatosis 2 and schwannomatosis -- are much more rare.

Bibbs' case is severe. The left side of his body is greatly affected, from tumors on his face to a distinct curvature in his leg.

He was diagnosed at the age of 8 months after his mother became concerned about a growth on his eye and another on the sole of his foot.

She discovered that she had a mild form of the disease, which she had unknowingly passed on to four of her five children. NF is an autosomal dominant genetic condition, meaning it may be inherited if just one parent has it.

Two of Bibbs' sisters have mild forms, and his brother Ronald died at age 46 when one of his tumors developed into a malignant peripheral nerve sheath tumor.

About half the cases of NF occur spontaneously, though, says John Slopis, M.D., associate professor in the Department of Neuro-Oncology and medical director of the Neurofibromatosis Program at MD Anderson.

For Bibbs, this early diagnosis began a lifetime of medical appointments and treatments for NF, which is chronic and debilitating. When he was 13, he "graduated" from Shriner's to MD Anderson.

Managing a range of physical and mental symptoms
MD Anderson's Children's Cancer Hospital specializes in the care of children with neurofibromatosis, who may suffer from pediatric brain tumors, and peripheral nerve and spinal tumors.

Treatments include chemotherapy, surgery and radiation, or any combination of these. And because many pediatric patients experience learning disabilities, CCH has developed a special intervention program to assist these patients with educational support needs.

Because he's an adult, though, Bibbs receives treatment at the Neurofibromatosis Clinic, which didn't exist when he first came to the institution. It's one of the few clinics in the nation dedicated to the long-term care of NF patients. They are subject to headaches, epilepsy, spinal deformities and cardiovascular problems in addition to tumors.

Bibbs has had many surgeries and has participated in clinical trials. He sees the staff of the NF clinic at least twice a year for screenings. They watch him carefully for disease progression or worsening of symptoms and to make sure his tumors aren't becoming malignant.

Because of his facial disfigurement, for many years he went out rarely, and only to places he felt safe. Though sometimes mocked, shunned or treated cruelly as a child, he recalls that his siblings and others in the neighborhood protected him.

'Their strength helps me'
Whether you encounter Bibbs out in public, through his website, or in a documentary, it's obvious that he's energetic, committed and happy.

He credits his friend Lou Congelio, a veteran Houston advertising executive, with helping him create an identity for "Just Ask," complete with a logo featuring a line drawing of Reggie's face. The site sells "Just Ask" T-shirts to raise awareness, and hundreds of fans and friends -- including celebrities -- have sent in photos of themselves wearing the shirts.

His supporters have encouraged him to make more public appearances, such as a trip to Minute Maid Park to see a Houston Astros game. He's been heartened by the warm welcomes he's received.

"I feel terrific about going out," Bibbs says. "People are excited to see me because they've seen me before." He feels he's found his calling in drawing attention and raising funds for research into this often-devastating disease, which strikes men and women of all races and backgrounds.

Because he is so tied into the NF community around the world -- not just NF patients, but those whose research and practice focus on the disease -- Bibbs is hopeful about the future for those with NF.

"I often wondered why I was born with NF," he says. "But if I didn't have it, there would still be others with it. Their strength helps me. I count it a blessing to know them. I just don't know what else I'd be doing."