Symptoms vary depending on the type of NF. NF impacts everyone differently and may lead to blindness, deafness, bone abnormalities, disfigurement, learning challenges, disabling pain, or cancer. Please refer to the different types of NF above to read about the varying symptoms and manifestations.

Café au lait spots (also called café au lait macules) are flat, pigmented spots on the skin. These spots are always darker than the surrounding skin regardless of ancestry or race. They are commonly referred to as “birthmarks”, but are often not present at birth. Café au lait spots are often among the earliest signs of NF1 and can appear anywhere on the body. While having one or two spots is normal, having six or more café-au-lait spots is often an indicator of NF1.  Learn more about café au lait spots here.

While severe disfigurement can occur in some cases, it is not the norm. Many individuals with NF live without any visible symptoms. The impact of N1 varies greatly from person to person. Some may face challenges related to learning disabilities, bone problems, skin changes, or tumors, but others may experience no significant impact on daily activities.

Only a physician can make a diagnosis of NF. Diagnosis typically involves a physical examination, and may also include imaging tests such as MRI or CT scans, or genetic testing, In some cases, a biopsy of the tumor may be necessary.  Learn more about the diagnostic criteria for the different types of NF.

Approximately half of individuals with neurofibromatosis type one (NF1) or NF2-related schwannomatosis (NF2-SWN) inherit the condition from one of their parents. The other half develop it as the result of a spontaneous (also called new or de novo) change in one of the NF genes before they were born. Both NF1 and NF2-SWN follow autosomal dominant inheritance. This means that individuals with either of these conditions have a 50% chance of passing the condition on to their offspring. 

The inheritance of the other types of schwannomatosis is less well understood, but most schwannomatosis cases appear to occur by chance and are not inherited. However, once an individual has schwannomatosis, it may be inherited as an autosomal dominant condition, and therefore, the chance of someone with schwannomatosis having a child with the condition may be 50%. More information on genetics and inheritance is available here.

 No. NF is not passed from person to person, like a cold or a virus. These are genetic conditions, which means that NF is something you are born with. 

Currently, there is no cure for NF. Treatments to manage symptoms (manifestations) and complications may include surgery to remove tumors, radiation therapy, pain management, and/or physical, occupational, and speech therapies. In 2020, the U.S. Food and Drug Administration (FDA) approved Koselugo (selumetinib), a MEK inhibitor drug for use in NF1 patients with inoperable plexiform neurofibromas, complex tumors that can cause serious problems. More treatments are on the horizon for other NF tumor types, including brigatinib which recent studies have show promise in reducing the size of tumors associated with NF2-SWN, mirametinib, another MEK inhibitor drug for plexiform neurofibromas, and NFX-179, a topical gel for use in the treatment of cutaneous neurofibromas. There are more than 65 clinical trials for NF in various stages of testing.

While the tumors in neurofibromatosis are usually benign, there is a risk that some may become malignant (cancerous). People with NF1 have an increased risk of developing certain types of cancer, such as malignant peripheral nerve sheath tumors. Studies have also shown that women with NF1 are more likely to develop breast cancer. This increased risk underscores the need for patients with NF to receive ongoing specialized care. 

The impact of NF varies widely among individuals. Many people may have mild symptoms and can lead full lives, while others may experience significant physical and neurological challenges that require ongoing medical care and support.

The primary risk factor for NF is having a parent with the condition, as it is an inherited genetic disorder. If one parent has NF, there is a 50% chance that their child will inherit the condition. However, NF can also occur spontaneously in a child without a family history of the disorder.

While there is no cure, maintaining a healthy lifestyle can help manage some symptoms. This includes regular exercise, a balanced diet, avoiding smoking, and managing stress. Regular check-ups with a healthcare provider are crucial for monitoring the condition.

There are several organizations and support groups dedicated to helping individuals and families affected by neurofibromatosis. The Children’s Tumor Foundation provides resources, support, and advocacy for those impacted by NF. Explore available resources here.  If you or a loved one needs help finding a doctor to treat NF, please visit our listing of clinics.

While some depictions are based on true facts about NF, others are representations by the artist and are not based on truth or scientific data.  Read more about some of the references of NF in our culture.