The Neurofibromatosis Program at the University of Chicago Medicine provides care for patients with neurofibromatosis type 1 (NF-1), neurofibromatosis type 2 (NF-2) and scwhannomatosis, a related condition. Traditionally, most clinics for NF have focused on children with NF-1. Our program is one of the few in the country that treats both adults and children and has done so for more than 20 years. In treating adults with NF-1, we are able to treat other NF-related conditions that are primarily adult diseases.

NF-related disorders are chronic conditions that require long-term management and follow-up. UChicago Medicine is uniquely able to provide continuity of care as patients progress into adulthood.

Adults with NF-1 have concerns that differ from those in children, including changes in physical appearance, complications associated with the continual development of tumors, including an increased risk for malignant (cancerous) tumors, chronic pain and family planning.

NF-2 is a very different disorder causing multiple central nervous system tumors in the brain and spinal cord. Hearing loss, as well as neurological impairment and seizures occur in most patients. Treatment for this disorder is changing and what was once exclusively a surgically treated disorder now has the potential to be treated with chemotherapy.

Schwannomatosis is a condition defined by the presence of multiple benign, but painful tumors of the nerves. The same multidisciplinary team that treats the complications of NF-1 and NF-2 is well qualified to provide support for patients with schwannomatosis.

Comprehensive, Expert Care

Physicians in our Neurofibromatosis Program have extensive expertise managing and treating these complex disorders and are able to provide the most advanced care to their patients. Since NF-related disorders may affect the nerves, spinal cord, brain, skin, and other systems throughout the body, specialists in neurology, neurosurgery, medical genetics, orthopaedics, dermatology, oncology, plastic surgery, psychology, psychiatry, radiology, otolaryngology, audiology and ophthalmology work together to ensure patients receive comprehensive care.

The NF-related disorders include NF-1, NF-2 and schwannomatosis, each with distinguishing symptoms. NF can be a serious and unpredictable disease, however many people with NF live a normal and productive life.

NF-1

The most common form of neurofibromatosis (NF) is NF-1. It is a genetic disorder that causes tumors to form on nerves. These may occur anywhere in the body. NF is one of the most common genetic disorders. It occurs in every racial and ethnic group and affects both sexes equally. There are at least 100,000 people in the United States with NF. In a city the size of Chicago, as many as 2,300 people have NF. The symptoms and progression of NF is different for each person. Common complications are café au lait ("coffee with milk") spots on the skin, brownish-red spots called Lisch nodules in the colored part of the eye, benign skin tumors called neurofibromas and larger benign tumors of nerves called plexiform neurofibromas. Some signs of NF-1 are usually visible within the first year of life, while other signs of NF-1 may develop as people get older. NF-1 is a progressive disorder and complications are age-specific.

NF-2

NF-2 is sometimes referred to as central neurofibromatosis or bilateral acoustic neuroma disease. Much like NF-1, the symptoms and progression of NF-2 is different for each person. NF-2 causes tumors along the nerves leading to the brain or spinal cord, as well as tumors of the covering of the brain and spinal cord, and the spinal cord itself. Because of this, NF-2 can cause serious disabilities. Patients may develop multiple tumors on nerves associated with swallowing, speech, eye movements and facial sensation, and on the spinal nerves going to the arms and legs. Signs of NF-2 are usually not present until people are teenagers or older. The most common symptoms of NF-2 are tinnitus (ringing in the ears), hearing loss and loss of balance.

Schwannomatosis

Schwannomatosis is a rare condition defined by the presence of multiple benign tumors of nerves that are frequently very painful. In addition to pain, weakness is a common problem. Symptoms usually begin in young or mid-adult years.

Evaluate Your Family

NF-1 and NF-2 are genetic disorders that may be passed from parent to child, but can also develop due to a spontaneous change in a gene. About half of those with NF-1 and NF-2 do not have a parent with the disorder and represent new genetic changes. The risk of an affected pregnancy for a patient with NF-1 or NF-2 is 50 percent for each pregnancy. The gene that causes NF-1 is different than the one that causes NF-2. Schwannomatosis is predominantly a sporadic condition, which means the risk of passing this disorder on to children is substantially less than in NF-1 and NF-2.

It is important to know whether other people in your immediate family have NF. Identifying who in a family is affected may be a sensitive and difficult issue because some people have feelings of guilt or shame associated with having a genetic disorder. However, there are good reasons for knowing who has NF. If, for example, you have NF-1 or NF-2, then any of your children can have NF. On the other hand, if your child has NF and you are sure that neither of the parents is affected, then the chance of having another child with NF is very small. Our well-informed and dedicated medical team can help families navigate this complex disease and can provide patients with information about genetic disorders, family planning and the risk of passing on NF to their children.
After an assessment of each patient’s needs, our experienced physicians develop a detailed care plan. Because of the variable nature of NF, some patients require no more than an annual neurological evaluation, blood pressure monitoring and imaging or hearing evaluations. Other patients may have persistent and complex medical issues.

Our Neurofibromatosis Program is made up of specialty physicians in a variety of disciplines. For example, UChicago Medicine has orthopaedic surgeons to help with the management of spinal deformities, radiologists who provide state-of-the art imaging, and neurologists and neurosurgeons who are skilled in the treatment of tumors affecting the nervous system and the timing of neurological surgery. Physicians at UChicago Medicine also have special expertise in the tumors that can cause unique complications in adults, including malignant peripheral nerve sheath tumors and pheochromocytoma.

Advanced Medical, Surgical Expertise

The key to successful management of NF-related disorders is regular follow up, often with imaging and other testing to check for complications of NF before they become advanced. Having treated more than 1,300 patients with NF, the NF team is experienced in detecting many of the complications simply on the basis of careful physical exams. In some instances however, especially with NF-2, regular imaging and other testing is important and the NF team works with radiologists and other specialists to interpret testing results. Our NF clinic can direct patients to experienced physicians who provide additional subspecialty treatment as needed.

Our understanding of NF-related disorders is rapidly changing. Currently, treatments are primarily surgical. Drug treatments are being evaluated in clinical trials, so it is likely that chemotherapeutic approaches will be available in the future. The multi-disciplinary approach of our NF team is uniquely prepared to coordinate such care.

Education

A second key to the successful management of NF is education. Because we are actively involved in research and clinical trials, the NF team can keep you informed of changes in our understanding and treatment of these conditions. We also focus on trying to help patients understand their condition so they can be more knowledgeable participants in their own assessments and care. In addition, we work closely with both local and national support organizations to provide education and support to patients through regular teaching sessions.

Research into New Alternatives for Treatment

Our Neurofibromatosis Research Program is currently focused on development of new drugs for optic pathway tumors, plexiform neurofibromas and malignant peripheral nerve sheath tumors. Another focus is the neurocognitive disabilities caused by NF-1. Clinical trials are currently open for the treatment of learning disabilities, progressive plexiform neurofibroma and malignant peripheral nerve sheath tumors. UChicago Medicine's program is part of a government-funded national consortium to develop treatments for NF-related disorders.