The term “neurofibromatoses” describes health conditions characterized by tumors forming on nerve tissue. These tumors—or fibromas—can grow anywhere in the nervous system, including the brain and spinal cord. Most are not cancerous, but their development can mean the affected person has an increased cancer risk.

There are three different types of neurofibromatosis, and all are genetic. This means they develop as a result of an abnormal mutation in a person’s DNA. These mutations can be congenital (inherited from a parent), or they can be spontaneous (present at birth but not passed down from parent to child).

Each of the neurofibromatosis types affects a different part of the body. Neurofibromatosis type 1, also known as von Recklinghausen’s disease, is the most common—accounting for 96% of all neurofibromatosis cases.

Neurofibromatosis type 1

Various symptoms of the condition now known as neurofibromatosis type 1 (NF1) were described by medical practitioners as far back as the 13^th century. In 1882, a German physician named Friedrich von Recklinghausen accurately described the condition in terms of how tissues and cells look under a microscope, and he also coined the term “neurofibromatosis.” For this reason, NF1 is sometimes called von Recklinghausen’s disease.

NF1 is relatively rare, affecting an estimated 1 in 3,000 Americans. However, it is the most common cancer predisposition syndrome, according to the National Cancer Institute (NCI). This means patients diagnosed with NF1 have a heightened risk of developing cancer at some point in their lives.

For patients with this type of neurofibromatosis, tumors develop on and underneath the skin, and they usually begin during childhood. NF1 tumors can grow individually, in small clusters or throughout the entire body, and the lesions are often accompanied by small patches of discoloration called café au lait spots on the surface of the skin. Older children, teens and adults may develop freckles in the underarm and groin areas.

In about 30% of NF1 cases, tumors called plexiform neurofibromas develop in the patient’s facial and skull region, usually early in life. Plexiform neurofibromas start out as benign—or noncancerous—but often transform into an aggressive form of cancer known as malignant peripheral nerve sheath tumor (MPNST) that is difficult to treat. The National Cancer Institute estimates that about 15% of patients with plexiform neurofibromas develop MPNST.

Neurofibromatosis type 2

An estimated 1 in 40,000 people develops the hereditary condition known as NF2. Unlike the far more common NF1, this second type of neurofibromatosis causes benign tumors, also known as acoustic neuromas, to develop on the main nerve leading from the inner ear to the brain. This can cause hearing and balance problems. NF2 tumors can also grow on spinal nerves.

NF1 vs. NF2

Other than the physical locations where NF1 and NF2 form, the most significant difference between these two types of neurofibromatosis is the risk for developing cancer. NF1 has been linked to the development of several types of cancer, including ovarian cancer, melanoma and a variety of sarcomas. Recent studies have indicated that people with NF1 are almost 10 times more likely than the general population to develop some form of cancer during their lifetime.

On the other hand, the lifetime risk of cancer development in a person with NF2 is low, according to the American Society of Clinical Oncologists.

Another big difference between NF1 and NF2 is the age of diagnosis. The symptoms of NF1 are often apparent at birth and during early childhood, whereas NF2 symptoms tend to become noticeable during a patient’s late teens or early 20s. Sometimes NF2 isn’t diagnosed until age 40 or later.

Schwannomatosis

This form of neurofibromatosis causes tumors to develop in the peripheral nerve cells. These tumors can form anywhere in the body, but they do not involve the skin or other organs. Schwannomatosis can be quite painful. However, in contrast to NF1 and NF2, schwannomatosis never becomes cancerous.

How Moffitt Cancer Center can help

When dealing with complex and uncommon health conditions like neurofibromatosis, it’s critical to seek care from well-qualified specialists who are experienced at diagnosing and treating your specific condition. Moffitt Cancer Center has treated patients with all types of neurological conditions, including rare and complex malignancies. Our team can expertly diagnose, monitor and treat patients with NF1, NF2 or schwannomatosis.

We take a highly individualized, patient-centered approach to neurofibromatosis treatment, which can range from dietary and behavioral counseling to radiation or chemotherapy for cancer. Additionally, because we’re the only NCI-designated Comprehensive Cancer Center based in Florida, many of our patients have access to groundbreaking cancer therapies and participation in clinical trials that are not widely available elsewhere.

At Moffitt, we are providing every new patient with rapid access to a cancer expert. To learn more about our services for those with neurofibromatosis, call 1-888-663-3488 or submit a new patient registration form online. You don’t need a referral to schedule an appointment.