Neurofibroma

What is a neurofibroma?

A neurofibroma is a benign tumor that develops along your nerve cells. This tumor is a symptom of a group of rare, inherited conditions called neurofibromatosis. People born with neurofibromatosis may have tumors on their skin, under their skin or deeper in their bodies. Most neurofibromas don’t cause medical problems. Some larger neurofibromas can affect many nerves and cause serious medical issues. Healthcare providers treat neurofibromas with surgery.

Who is affected by neurofibromas?

People are born with neurofibromas, but it can be years before the tumors become noticeable. Neurofibromas typically become more noticeable during adolescence. Approximately 1 in 3,000 children have neurofibromatosis Type 1 (NF1), which is usually diagnosed by age 10. Approximately 25% of those children develop tumors that grow large enough to cause serious medical issues.

How do neurofibromas affect people?

Neurofibromas affect people in different ways depending on the tumor type, size and location. Some neurofibromas cause small lumps or patches of thickened skin. Other larger neurofibromas can affect people’s internal organs and spinal cords.

Are neurofibromas cancerous?

Most neurofibromas aren’t cancerous, or malignant. But about 10% of all plexiform neurofibromas can become cancerous.

What are neurofibroma symptoms?

Neurofibroma symptoms vary depending on the tumor type, size and location. Some people who have neurofibromas may never have symptoms. But sometimes, neurofibromas can cause serious medical issues such as paralysis or blindness. Here’s information about neurofibroma types and related symptoms:

• Localized neurofibromas: Localized neurofibromas are called cutaneous neurofibromas. These are small lumps that can appear all over people’s bodies. These tumors typically affect people aged 20 to 40. Neurofibromas may itch and can hurt if you press on them.
• Diffuse neurofibromas: This is another cutaneous neurofibroma type. This tumor usually appears on people’s heads and necks, causing a raised area of thickened skin that may tingle or feel numb when touched.
• Plexiform neurofibromas:This type of neurofibroma grows on groups of nerves. Plexiform neurofibromas often affect children who have neurofibromatosis Type 1. These tumors can grow over time, becoming very large lumps on children’s skin or under their skin. Symptoms may include paralysis, weakness or numbness from pressure on their spinal cord or peripheral nerves. Some children who have plexiform neurofibromas develop scoliosis caused by tumors pressing into their spines.

What do neurofibroma look like?

Neurofibromas that develop on or under your skin look very different from plexiform neurofibromas that can develop deeper in your body. Neurofibromas can look like:

• Localized neurofibromas (cutaneous neurofibromas): These are flesh-colored nodules that typically appear on people’s trunks, heads, necks, arms and legs. These tumors are about the size of a pea. They’re soft and squishy — when you push on a localized neurofibroma, it’ll sink into your skin, popping up after you stop pushing on it. Healthcare providers call this the buttonhole sign.
• Diffuse neurofibromas: A diffuse neurofibroma may look like a raised area of reddish-colored skin.
• Plexiform neurofibromas: These tumors can look like large lumps of flesh that push out from your body. Healthcare providers describe these tumors as looking like a bag of worms under the skin.

What is neurofibromatosis Type 1?

Neurofibromatosis Type 1 (NF1) affects about 1 in 3,300 newborns. Neurofibromas is one symptom of NF1. Other symptoms include:

• Café-au-lait spots: Large patches of light brown or coffee-colored skin that get larger over time.
• Benign growths on their iris: The colored part of your child’s eye.
• Tumors in the vision nerve, called optic pathway gliomas.

What causes neurofibromas?

Neurofibromas are a symptom of neurofibromatosis Type 1 (NF1) that’s caused when a gene called the NF1 gene mutates or changes. The NF1 gene carries instructions for making a protein called neurofibromin.

Neurofibromin is a tumor suppressor protein that normally prevents cells from growing or dividing too quickly or uncontrollably. It does that by managing a protein called a ras protein that supports cell growth and division. When the NF1 gene mutates, it stops blocking cell growth, paving the way for cells to multiply and become tumors.

People can inherit NF1 if one parent is carrying the genetic mutation. That parent may have inherited the mutation from one of their parents. About 50% of people with NF1 don’t have a family history of the disease.

How do healthcare providers diagnose neurofibromas?

Healthcare providers typically use a physical examination to diagnose neurofibromas. They might also use the following imaging tests:

• Computed tomography (CT) scan and magnetic resonance imaging (MRI): Healthcare providers use these tests to find very small tumors. They may also use them to find out where a tumor is located and to identify any nearby tissues or organs that could be affected by surgery.
• Positron emission tomography (PET) scan: Healthcare providers use this test to see if a tumor is benign (noncancerous) or cancerous (malignant).

How do healthcare providers treat neurofibromas?

Healthcare providers have several ways to treat neurofibromas:

• Monitoring: If your neurofibroma is benign (noncancerous) and isn’t causing problems, your healthcare provider may recommend regular check-ups to monitor for changes.
• Plastic surgery: Your healthcare provider may recommend removing benign tumors that are on the surface of your skin or beneath your skin.
• Surgery: If you have neurofibromas pressing on your bones or organs, your healthcare provider may recommend surgery to remove as many tumors or as much of a tumor as possible without damaging your organs and tissues.

What are the side effects of neurofibroma surgery?

Neurofibroma surgery side effects vary based on the surgery type. For example, surgery to remove tumors on your skin will have different side effects from surgery to remove tumors from your spine. If you’re planning neurofibroma surgery, ask your healthcare provider for information about surgery side effects.

Can neurofibromas be prevented?

Neurofibromas can be a symptom of an inherited disorder. That means you can’t prevent these tumors from developing.

What can I expect if I have a neurofibroma?

Generally speaking, most people who develop neurofibromas aren’t affected by the condition. But people who have lots of these tumors or have noticeable tumors may feel their appearance affects their quality of life. If that’s your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.

How do I take care of myself if I have neurofibromas?

Neurofibromas are benign tumors that rarely cause serious medical issues. People who have many neurofibromas or noticeably large neurofibromas sometimes feel self-conscious about their appearance, though. Surgery might be an option.