Children's Health

Struggling With Neurofibromatosis

Mother and daughter at doctors office

Most of us have probably never heard of neurofibromas, little pea-sized tumors that can grow on nerve tissue. But actually, many of us may have one or a few.

These tumors are usually benign, or safe. But 1 in 3,000 children can be born with a condition called neurofibromatosis, where they often develop many of these soft, fleshy little tumors all over their bodies.

“It’s a developmental syndrome affecting the skin, bones and nervous system,” said Dr. Mario Maruthur, a dermatologist at the Children’s Hospital of Georgia. “As children with neurofibromatosis go from birth to adulthood, they can develop areas of irregular brown pigmentation on their skin; many of the soft, fleshy neurofibroma skin tumors; as well as developmental problems with their bones. Rarely, they can develop more problematic tumors inside the body in the central nervous system, or brain and spinal cord.”

Is It Cancer?

For the most part, the skin tumors of neurofibromatosis are safe, but patients may not like how the bumps look, especially if neurofibromas are on the face.  

As children grow, the disease can also affect how bones grow, leading to scoliosis, and even fractures, said Maruthur. “And in the head and spinal cord, there can be damage by developing tumors there as well,” he said.

Tumors can frequently develop on the optic nerves, affecting vision. Another, less common type of neurofibromatosis can lead to tumors on the auditory nerve, causing children to lose hearing, if left untreated.

All of these tumors can be removed surgically, usually as an outpatient in the doctor’s office.

Still, it’s important to mention that the skin tumors do have a small risk—less than 10%—of transforming into a cancer. Sometimes, neurofibromas can cluster together into “bags” called plexiform neurofibromas, and those must be removed since they too carry a cancer risk. And although the risk of the tumors transforming into cancer is low, patients with neurofibromatosis are at increased risk for developing other types of cancer, most commonly certain types of blood cancers. 

As a result of all this, “we monitor children throughout life,” said Maruthur, taking out any problematic tumors early before they can cause damage. In most cases, children with neurofibromatosis will see a dermatologist, an eye doctor, and sometimes a neurologist once a year for a checkup. Only children with rarer forms of neurofibromatosis require screening using imaging, typically an MRI or CT scan.

“We also monitor blood pressure, since children can develop high blood pressure caused by the disease affecting the arteries that go to the kidneys,” said Maruthur.

Who’s Affected?

While no one knows a specific cause for neurofibromatosis, about half of all cases have some family link, usually a first-degree relative like a parent or a sibling with the disease.

Children with neurofibromatosis are usually diagnosed at birth. A telltale sign is if a child has six or more “café au lait” spots—light brown patches—on the skin. Other signs could include groups of freckles in the underarm or groin.

Neurofibromas often develop around puberty, although some children will get them earlier. How many tumors a child might develop “just depends,” said Maruthur. “Some develop a few, others hundreds or even thousands,” he said, and patients tend to grow more tumors throughout life. “Still, for some people, you’d never guess, and for others, the disease might be disfiguring and difficult.”

The Impact of COVID-19

Fortunately, the pandemic shouldn’t impact most patients with neurofibromatosis in terms of their medical care, since most only need annual visits with a doctor. But COVID-19 is presenting a challenge this way: About 50% to 80% of children with neurofibromatosis also have a significant learning disorder, says Maruthur.

“That’s one thing that is almost universal—the high prevalence of learning disabilities,” he said. “It can be very difficult for children and parents.”

Learning disabilities can range from difficulty reading or writing and difficulty with memory to attention deficit hyperactive disorder and dyslexia. “We don’t know why, but the gene for neurofibromatosis that’s mutated is probably also involved in learning and cognition,” he said.

For parents of a child diagnosed with neurofibromatosis, it’s important to closely monitor how children learn, even before they start school, and to talk to their doctor if they’re concerned about a learning disability.

“The disease isn’t common, but it also isn’t uncommon,” said Maruthur. “The important thing for families affected by neurofibromatosis is that regular monitoring—and checking in with their doctor if they notice any rapid changes in neurofibromas.”

The Children’s Hospital of Georgia has the largest team of general pediatricians, adolescent medicine physicians and pediatric specialists, including dietitians, in the Augusta area. Make an appointment at augustahealth.org/kids or call 706-721-KIDS (5437).

About the author

Children's Hospital of Georgia

Children's Hospital of Georgia

Children’s Hospital of Georgia is the only facility in the area dedicated exclusively to children. It staffs the largest team of pediatric specialists in the region who deliver out- and in- patient care for everything from common childhood illnesses to life-threatening conditions like heart disorders, cancer and neurological diseases.