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Neurofibromatosis Is A Lifelong Condition, But It Can Be Managed. Here's What To Know

Posted on April 3, 2024 by Elizabeth Swanson
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Receiving a diagnosis of any chronic disease can be difficult to grapple with - and neurofibromatosis (NF) is no different. Often diagnosed during childhood, it’s a group of genetic conditions that cause tumors to grow on nerves. While these tumors are not cancerous, they can cause pain, disability and itching as they press against body tissue and organs. In some instances, they can become malignant.

There are a few types of NF, but the most common is type 1, which affects about one in 2,500 people worldwide. “Because neurofibromatosis can affect all of the nerves – along with other tissues - it’s associated with a variety of complications throughout life, from eye and skin issues to bone, neurological and even cardiovascular issues,” says Tobias Walbert, M.D., Ph.D., M.P.H., director of the multidisciplinary neurofibromatosis clinic at Henry Ford Health. “It’s best to manage the condition with a team of doctors, including neurologists, oncologists, dermatologists, ophthalmologists, psychologists, orthopedists, neurosurgeons and more.” 

Neurofibromatosis isn’t curable, but many of its complications aren’t life threatening. “That said, NF can lead to certain serious complications and it’s important to be proactive about them,” says Dr. Walbert. “Every period of life has its own NF challenges. It’s about working on the symptoms and living the best life you can.” 

Here, Dr. Walbert explains the complications to be aware of at each stage of life.

Neurofibromatosis In Childhood

While neurofibromatosis is usually inherited from a parent, 25% of people with neurofibromatosis develop a spontaneous mutation. The reasons for this are unknown, but Dr. Walbert says some of the first signs of neurofibromatosis include:

  • Having six or more café au lait spots (or light brown birthmarks) that are bigger than .5 centimeters before puberty. In adulthood, they may grow to be bigger than 1.5 centimeters.
  • Freckling in the armpit or groin.
  • Changes in the color of the iris, which is due to nodules (or dark spots) developing on the iris. This doesn’t alter vision. 

As NF takes hold, additional manifestations of neurofibromatosis may develop throughout childhood, such as: 

Neurofibromatosis Care At Henry Ford

Learn about the different types of neurofibromatosis or find a doctor.
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  • Optic nerve gliomas, or tumors that grow along the optic nerve in the brain. They are one of the more serious complications to be aware of during childhood and are sometimes associated with delayed or early puberty. “Optic nerve gliomas can have significant impact on vision and, if left untreated, can lead to impaired vision,” says Dr. Walbert. “Parents should seek care for their children at a specialized neurofibromatosis center so complications can be monitored and addressed early on.” If required, chemotherapy and new targeted therapies may be used to treat optic nerve gliomas.
  • Neurofibromas, or benign tumors that appear on or under the skin, often during adolescence. “These look like little skin folds and bumps,” says Dr. Walbert. “They usually don’t become cancerous, but they can make people feel self-conscious. We don’t remove them because it creates scar tissue—and they tend to return.” For many people with NF, therapy might be helpful to cope. There are also NF summer camps for children to build self-esteem and bond with others who are going through similar circumstances.   
  • Plexiform neurofibromas, or tumors that grow along the nerves. “Plexiform neurofibromas can push on the nerves and become painful,” says Dr. Walbert. “They have about a 10% chance of becoming cancerous over someone’s lifetime.” New targeted therapies, called MEK inhibitors, are being developed to target plexiform fibromas. A therapy called Selumetinib is approved for children under 18 and is in clinical trials for adults. It can shrink plexiform neurofibromas, improving pain and quality of life.
  • Bone defects and scoliosis. Some children with NF will develop softening/curving of the bones or scoliosis, where the spine forms an S or C shape.
  • Learning challenges. About 50% of children with NF encounter learning challenges. This is because NF1 is thought to cause changes in the brain. “It often results in attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD) or problems with reading comprehension,” says Dr. Walbert. “It’s important to identify these issues as soon as possible so help can be provided, as I have NF patients who have their Ph.Ds.” 

Neurofibromatosis During Pregnancy

For those with NF, another period of life that requires special consideration is pregnancy. “Pregnancy can cause new plexiform neurofibromas to develop and existing neurofibromas to grow larger,” says Dr. Walbert. Pregnancy is also associated with specific maternal and fetal risks, such as preterm delivery, intrauterine growth restriction due to neurofibromas, still birth and first-trimester miscarriage. 

“That said, you can have a full-term, healthy baby,” says Dr. Walbert. “It will just be important to be closely monitored by your team of doctors.”  

Neurofibromatosis In Adulthood

Neurofibromatosis is a progressive disease, meaning it can worsen in adulthood. It’s important to continue care in a specialized neurofibromatosis clinic, as complications vary. They include:

  • High blood pressure. Tumors can compress the kidney arteries, causing the kidneys to think they’re not getting enough blood flow. This can create high blood pressure because the kidneys are trying to increase blood flow by increasing blood pressure. If you have NF, have your blood pressure monitored at least yearly.
  • Breast cancer. Women who have neurofibromatosis are four times more likely to develop breast cancer than women who do not have neurofibromatosis, which is why it’s important to begin breast cancer screening at age 30.   
  • Nerve pain. The pain caused by plexiform fibromas can be difficult to deal with, but your doctor can give you special medications to manage it.
  • Malignant plexiform fibromas. Plexiform fibromas are at risk for becoming cancerous, typically during young adulthood. They can turn into a malignant peripheral nerve sheath tumor, or an MPNST, which is aggressive and has a poor outcome. Symptoms of an MPNST include: a plexiform fibroma that’s growing quickly, causing severe pain or hardening in texture, along with feeling localized weakness, numbness, tingling or having bowel or bladder problems, depending upon the location of the tumor. “It’s important to have plexiform fibromas monitored by your doctor—often with MRI—to ensure they don’t change,” says Dr. Walbert. “There’s a lot of research to determine what drives these plexiform fibromas to grow. We’re also researching additional ways to shrink them. It’s just the beginning, but we’re making strides.”  

Reviewed by Tobias Walbert, M.D., Ph.D., M.P.H., a neurooncologist who is co-director of the Hermelin Brain Tumor Center and director of the neurofibromatosis clinic at Henry Ford Health. He sees patients at Henry Ford – Cancer in Detroit and Henry Ford West Bloomfield Hospital.

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