Neurofibromatosis

Question 1

NF-1

Answer

The most common form of neurofibromatosis (NF) is NF-1. It is sometimes referred to as peripheral neurofibromatosis or von Recklinghausen’s disease. People with NF-1 generally have brown oval or circular spots on the skin called, café-au-lait spots, and freckles under the arm or in the groin area. Benign soft tumors or lumps on or below the skin are called neurofibroma; brownish-red spots in the iris (the colored part of the eye) are called Lisch nodules. Both are present in most people. 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. It is important to remember that while the problems caused by NF-1 can be serious, this disorder usually does not keep people from living a normal and productive life.

Question 2

NF-2

Answer

NF-2 is sometimes referred to as central neurofibromatosis or bilateral acoustic neuroma disease. NF-2 is different for each person, but because it affects nerves next to the brain or spinal cord, the problems of NF-2 can cause serious disabilities. Even so, many people with NF-2 can lead relatively normal, rewarding lives and learn to overcome obstacles they may encounter.

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.

Question 3

Schwannomatosis

Answer

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.

Question 4

Risk Factors

Answer

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.

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.

Our dedicated team of experts can help families navigate this complex disease and provide patients with information about genetic disorders, family planning and the risk of passing on NF to their children.

Question 5

Advanced medical and surgical expertise

Answer

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. The NF team at UChicago Medicine 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.

Question 6

Education on NF management

Answer

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.

Question 7

Research into new alternatives for treatment

Answer

Our Neurofibromatosis Research Program is currently focused on the 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.

Neurofibromatosis