Neurofibromatosis

Neurofibromatosis (NF) is a group of genetic disorders that causes tumors (usually non-cancerous or benign) to grow on nerves and other parts of the body. All children and families affected by NF benefit from specialized care from healthcare providers that have experience with the condition.

Types of Neurofibromatosis

There are several distinct types of neurofibromatosis: 

• Neurofibromatosis Type 1 (also called von Recklinghausen disease)
• NF2-related schwannomatosis (formerly Neurofibromatosis Type 2)
• Schwannomatosis

Children who have one type of neurofibromatosis are not at increased risk of getting another type. 

Neurofibromatosis Type 1 (NF1)

NF1 is a relatively common genetic disorder that affects about 1 out of every 3,000 people. Someone may be the first person in their family to have NF1, while others have a parent with NF1. It affects many organ systems in the body, including the bones, the skin, the eyes, and the brain. An early sign of the condition can be the presence of many birthmarks called café-au-lait spots. It is important to note that someone without NF1 can have these birthmarks as well. Any child with more than 6 of these birthmarks should be seen by an NF1 expert to determine if these birthmarks are a sign of the condition. 

People with NF1 typically develop benign tumors or growths called neurofibromas. Neurofibromas can grow anywhere in the body where there are nerves but are often seen just under or on top of the skin. Most tumors are not a medical issue, but some can cause pain, itching, or cosmetic concerns. Sometimes tumor growth may also make movement difficult and interfere with regular body functions such as vision, swallowing, breathing, urinating or having a bowel movement.  

About half of the children with NF1 will also have some difficulties with learning and attention.  

While scientists have not discovered a cure for NF1 yet, they are developing more effective treatments. One example is a new way to treat inoperable plexiform neurofibromas that uses a drug called selumetinib (also known as Koselugo™), which is recommended in children 2 years of age and older. 

All people with NF1 should see an NF1 expert at least once a year. 

A. Tibial dysplasia, a bowing of the lower leg bone, seen on x-ray.

B. Dermal neurofibromas on the skin.

C. Lisch nodules on the iris of the eye as viewed using a slit lamp microscope.

D. Axillary freckling seen in the underarm area.

NF2-related Schwannomatosis

Previously referred to as Neurofibromatosis Type 2, updated guidelines recommend the term NF2-related schwannomatosis.

NF2-related schwannomatosis (NF2). is a rare genetic disorder that affects about 1 out of every 25,000 people. Someone may be the first person in their family to have NF2, while others have a parent with NF2. It is characterized by tumor growth that impacts nerves inside the body. Almost all people with NF2 will develop tumors of the inner ear (on the auditory nerves) impacting both of their ears. These tumors may affect balance and hearing, as well as other functions. People with NF2 are also at an increased risk to develop benign tumors in other parts of the body, such as the brain, spinal cord and peripheral nerves (nerves in the arms and legs).

Someone with NF2 should see an NF2 expert at least once a year.

Schwannomatosis

Schwannomatosis is a rare form of neurofibromatosis that usually affects people after age 20. Patients with schwannomatosis develop multiple schwannomas (Schwann cell tumors) on different parts of their bodies, such as their cranial, spinal and peripheral nerves, arms, legs, chest, or abdomen. These tumors are not cancerous, but they often are painful.

These conditions affect both men and women of any race or ethnic group. Lurie Children’s offers specialized care for children and families with NF through our Neurofibromatosis Program.