Neurofibromatosis

The Comprehensive Neurofibromatosis (NF) Clinic at UT Southwestern Medical Center, in conjunction with the Neurofibromatosis Clinic at Children’s Health, offers expert diagnosis and treatment for each type of NF from childhood through adulthood. We have state-of-the-art technology, advanced cancer screening services, and unique subspecialists with the experience and background to meet the particular needs of every patient. 

As the only National Cancer Institute-designated comprehensive cancer center in North Texas, we deliver the best cancer care available today and push to discover new treatments. NCI designation means we offer patients the ability to participate in the broadest possible range of clinical trials, with access to potential therapies not available at other facilities.

Specialized Care for Patients with Neurofibromatosis

Neurofibromatosis (NF) is a genetic disorder that causes tumors to grow on nerve tissue. These tumors can form anywhere in the body, even on the brain. The tumors are usually noncancerous but sometimes can become cancerous (malignant).

UT Southwestern offers a comprehensive approach to treating and managing neurofibromatosis at each stage of the disease throughout our patients’ lives. 

We have the latest treatment options supported by our ability to leverage new treatments through clinical trials for our patients. 

Conditions We Treat

The NF Clinic treats patients with all three types of neurofibromatosis:

• Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease
• Neurofibromatosis type 2 (NF2)
• Schwannomatosis 

Although these share the name of neurofibromatosis, they are unique disorders with different symptoms and presentations. There is no proven medical treatment to cure neurofibromatosis, and clinical follow-up with experts like ours is critical. 

The NF Clinics at UT Southwestern and Children’s work in partnership with the Texas Neurofibromatosis Foundation for patient and parent support. 

Causes and Symptoms of Neurofibromatosis

Neurofibromatosis is caused by genetic mutations that are passed from parent to child or that occur spontaneously at conception. About half of people with NF1 and NF2 inherited it.

Type 1 (NF1): The most common type, NF1 causes skin changes and deformed bones and usually starts at birth. Symptoms include:

• Bone deformities, such as scoliosis or a bowed leg
• Freckles in the armpits or groin
• Harmless flat, brown spots on the skin, called cafe au lait spots, usually present at birth or appearing during first year of life, possibly increasing in number over time; having more than six is possibly indicative of NF1
• Larger than average head size
• Learning disabilities, usually mild, often of a very specific type, such as problems with visual-spatial skills or attention-deficit hyperactivity disorder
• Short stature
• Soft bumps on or under the skin
• Tiny bumps on the iris of the eye, which a physician can detect with special equipment 

Type 2 (NF2): Much less common, NF2 causes hearing loss, ringing in the ears, and balance problems. It can also lead to cataracts or numbness or weakness in the arms or legs, and it often starts in the late teen or early adult years. 

Schwannomatosis: The rarest type, schwannomatosis causes intense, chronic pain in any part of the body, generally affecting people in their 20s and 30s. Development of tumors in the cranial, spinal, and peripheral nerves is possible, but they do not affect the nerve that controls hearing and balance. 

Diagnosis and Treatment

Neurofibromatosis is usually first suspected by a pediatrician, who will then refer the child to a doctor at a specialty center like UT Southwestern. Diagnostic tests for neurofibromatosis include:

• Eye exam
• Ear exam
• Imaging tests
• Genetic tests
• Blood tests 

Treatments for NF focus on managing the symptoms but do not cure the disease. Patients might be treated with medicine, pain management techniques, or surgery, as the symptoms require. 

Research and Clinical Trials

At UT Southwestern, physicians and scientists work together every day to turn discoveries into innovative therapies. It’s unique among medical centers in North Texas. 

A close partnership between the NF Clinics at UT Southwestern and Children’s  and the basic science laboratories at UT Southwestern that are focusing on NF research is already yielding promising discoveries. A 2008 study revealed a link between the growth of plexiform neurofibromas, which are large, complex tumors that occur in 25 to 40 percent of patients with NF1, and the immune system. This discovery spurred a second phase of the study in people with neurofibromatosis, which is now underway. 

In addition, we offer a range of clinical trials for our patients with NF, providing tomorrow’s treatments before they are widely available. Patients should speak with their doctor to find out if clinical trials are an option in their treatment strategy.