Neurofibromatosis (NF) is a genetic condition that causes tumors to grow along nerves in the skin and deep inside the body. The two main types of NF are NF1 (also known as von Recklinghausen’s disease) and NF2 or Schwannomatosis.
People with NF1 often have cafe-au-lait spots that get larger over time and freckles in atypical places such as under the arms or in the groin. They also have noncancerous (benign) tumors that grow on and around nerves.
Symptoms
The signs and symptoms of neurofibromatosis vary from person to person. In type 1 neurofibromatosis (NF1), the most common changes are flat light brown spots on the skin called cafe-au-lait spots and freckles under the arms or in the groin. Other features of NF1 include growths along nerves in the skin and brain (neurofibromas), which are noncancerous tumors, and a tangle of extra nerve tissue that occurs under the skin or in the spinal cord and other parts of the body (plexiform neurofibromas). The condition also can cause headaches, numbness in the hands and feet, and hearing loss in about half of people with NF1.
Neurofibromatosis type 2 (NF2) is more common than type 1. This form of NF causes benign tumors to grow on nerve tissue near the ears. The tumors develop along the nerve that carries balance and hearing information from the inner ear to the brain. NF2 is caused by a change (mutation) in one of two genes, SNAI1 and SNAI2. These genes help control the growth of cells. When they malfunction, the cells grow and form neurofibromas and other abnormalities.
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Symptoms of NF2 usually start in early childhood and are most noticeable by age 10. They include headaches, numbness or tingling in the hands or feet, and a curved spine (scoliosis). People with NF2 may also have hearing loss.
Doctors can diagnose NF2 with a physical exam, a blood test, and an eye exam. They also use imaging tests, such as an MRI or CT scan, to look for nerve tumors and a tangle of extra nerve tissues under the skin (plexiform neurofibromas). A new medicine can shrink plexiform neurofibromas in some children with NF2. Scientists are developing more effective treatments.
There is no cure for NF2. But treatment can help reduce the severity of some symptoms, such as tumors that press on a nerve and the resulting headaches or hearing loss. Treatment involves supporting healthy growth in children and weighing the risks and benefits of surgery. Doctors can offer patients anesthesia or nerve blocks to prevent or lessen pain.
Diagnosis
NF is a genetic condition that affects people of all ages. It causes small noncancerous tumors to grow in the nervous system (neurofibromas). These growths usually cause no symptoms but they can sometimes cause health problems or make it harder for people with NF to do certain things. People with NF can have different types of tumors, including slow-growing Schwann cell tumors called schwannomas or meningiomas, which occur in the cranial and spinal nerves. Occasionally these can be painful. A more severe type of NF, called segmental schwannomatosis, occurs when people develop a few schwannomas in a specific part of the body.
A doctor can diagnose NF with a physical exam, blood tests and imaging tests. These include X-rays, MRI scans and CT scans to check for changes in the bone structure and see if there are any neurofibromas. The doctor may also ask about the person’s family history to find out if anyone else has NF or a similar genetic condition.
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There are three forms of NF: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and neurofibromatosis type 3 (NF3). People with NF1 are more likely to have the following signs and symptoms:
More than six cafe au lait spots (birthmarks that look like flat patches of light to dark brown skin). Schwann cell tumors (neurofibromas) under the skin in different parts of the body, which can be pea-sized or larger, soft or hard, and can be any color, shape or texture. They can often be seen on the back of the legs, underarms or groin. They can also appear on the face and skull.
People with NF2 are more likely to have the following signs and features:
Schwann cell tumors under the skin in different parts of the body, most commonly on the limbs and in the trunk and pelvic area. They can be in different colors, shapes and textures, but most often are small, smooth and firm. They can be painful, but they are not cancerous. They can block the flow of urine and lead to high levels of calcium in the bloodstream, causing osteoporosis or other bone-related health problems.
Treatment
There’s no cure for neurofibromatosis, but there are treatments that can control the condition and reduce symptoms. Most doctors diagnose NF based on family history, imaging studies, certain signs and symptoms, and sometimes genetic testing. Treatment for the three types of NF focuses on managing tumors that grow on nerve tissue.
The first step is to have regular doctor visits. For children, this may be every 6 to 12 months. For adults, it’s usually once a year. Your GP or specialist will talk with you about your health and symptoms, and then examine you. If your GP thinks you might have NF, they’ll refer you to a specialist for further tests.
Neurofibromatosis type 1 (NF1) is most common. It’s most often diagnosed during childhood or adolescence. It causes cafe au lait spots, freckles on the skin that can appear anywhere, and it usually also leads to multiple neurofibromas. Neurofibromas are small, pink, soft lumps that grow on nerves throughout the body. They’re mostly harmless, but some people are bothered by them. Over time, the neurofibromas can grow larger, and they may cause pain, vision changes or other problems.
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Some people with NF1 have learning difficulties, which can be hard to cope with. They may also have weak bones that cause a curve of the spine (scoliosis). This can be treated with medicine, braces or surgery. There’s a risk (10 per cent over a lifetime) that the plexiform neurofibromas can turn into cancer. People with NF1 have an increased risk of getting brain tumors, including malignant peripheral nerve sheath tumors. This is why it’s important to have regular MRI scans and other diagnostic tests, so that any new growth can be detected and managed.
There’s no cure for neurofibromatosis type 2 (NF2), but there are treatments that can control the disease and manage symptoms. These include regular MRI scans, eye exams, medicine to treat seizures and migraines, surgery for bone abnormalities, and medicines to slow the growth of tumors. The drug selumetinib (Koselugo) is a good choice for treating plexiform neurofibromas in people with NF2. It’s also being studied to see if it can help prevent NF2 tumors from growing in the eyes and ears.
Prevention
There’s no known way to prevent neurofibromatosis. However, it’s important to see your healthcare provider if you have any symptoms, especially if they interfere with daily activities or cause pain. Getting a diagnosis may help you understand how the disorder can affect your family members and plan for the future.
The most common type of NF is called neurofibromatosis type 1 (NF1). It causes skin changes, including cafe au lait spots and freckles in the armpits and groin area, as well as tumors on nerves that can cause hearing loss and balance problems. NF1 can also lead to bone deformities, like scoliosis.
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NF1 occurs when a change (mutation) in a gene causes the body to make too much of a protein called neurofibromin. This protein manages how often cells divide and create new ones. If too many cells form, they can grow into a tumor. Almost all NF1 tumors are noncancerous, but some can be cancerous. NF1 usually starts in childhood and can cause problems throughout life.
The other type of NF is called neurofibromatosis-2 (NF2). This condition can cause different types of tumors, but it’s less common than NF1. The most common type of NF2 is called bilateral acoustic NF2. It affects the vestibular nerve and can cause loss of balance and hearing. It can also increase the risk of certain other types of nervous system tumors. NF2 can also cause pain.
There isn’t a way to prevent neurofibromatosis, but regular screening can help identify the signs and symptoms of the disease early. Your healthcare provider can perform a physical exam and order blood tests to check for certain signs of NF, such as enlarged breasts (fibroadenomas), changes in your blood pressure or heart rate, and problems with your vision or hearing. It’s also important to share your family history with your healthcare provider. This can help them determine if you have a genetic mutation that can cause NF. It can also help them predict your risk of developing other health conditions. This information can guide your treatment plan.
