Neurofibromatosis (NF) is a genetic condition that can affect your brain, spinal cord and nerves. It also causes tumors on or under your skin.
Some people inherit NF1 from their biological parents. But about half of all NF1 cases happen randomly, without family history.
Your healthcare provider can diagnose NF with a physical exam and tests. These may include an MRI, CT scan or an ultrasound.
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Cafe au lait spots are light-to-dark brown color birthmarks that appear on the skin as well-circumscribed, evenly pigmented lesions. Typically, they don’t cause any symptoms, but if they press against nerves, they can lead to tingling and weakness.
Most doctors can make a diagnosis of cafe-au-lait spots based on physical examination and the appearance of these skin patches. If a person has one to three spots, the doctor may conclude that no further testing is needed. However, more than six CAL spots are often present on people diagnosed with neurofibromatosis type 1.
In prepubertal children, a combination of cafe-au-lait spots and the presence of other features of NF1 can suggest that the child has the disorder. In this case, the healthcare provider may recommend periodic monitoring and follow-up visits.
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While freckles are common, you might notice spots of light tan or brown in atypical locations like the armpit or groin. You also might have plexiform neurofibromas, benign tumors that develop deeper inside the body.
A healthcare professional can diagnose NF1 with a physical exam, a review of your family history and an eye exam to see if you have Lisch nodules in your iris. You may also have an MRI or X-ray to see bone changes, brain tumors and other abnormalities.
You might be able to join a clinical trial that’s investigating new approaches to treating this condition. The National Institutes of Health has information about joining a study.
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NF1 symptoms start in childhood, usually before age 10. They can be clusters of freckles (called cafe au lait spots) that form in the armpits and groin area, or small, soft, rubbery tumors under the skin called neurofibromas.
The NF1 gene change keeps the cell from creating a protein called neurofibromin, which normally stops cells from growing out of control. This leads to tumors along nerves throughout the body.
Symptoms vary from person to person, but they include high blood pressure, an abnormal curvature of the spine (scoliosis), and a risk of certain cancers such as malignant peripheral nerve sheath tumors and brain tumours. People with NF1 may also develop complications such as pain, tinnitus and impaired balance.
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X-rays and imaging tests help doctors identify curves in the spine, called scoliosis. Your doctor may also ask you to bend forward while standing in a particular way to see if your spine looks curved, or perform a computed tomography (CT) scan of your back and spine.
You will have regular exams and blood tests to check your symptoms. You should tell your healthcare provider about any family history of neurofibromatosis. This can help scientists better understand the condition and find treatments that might work for you.
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Hypertension is a common condition that affects your blood pressure. It can lead to a number of serious problems, including heart attacks and kidney disease. Your health care provider will check your blood pressure regularly.
Neurofibromatosis type 1 (NF1) and NF2-related schwannomatosis both cause tumors to grow on nerves in your skin and deeper inside your body. They may also cause other symptoms, like curved lower legs (scoliosis), a higher risk of certain cancers, and a ringing in the ears (tinnitus). Your healthcare provider will diagnose these conditions by doing a physical exam. They will examine your skin for cafe au lait spots and neurofibromas, and test your blood pressure, vision, and hearing.
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In some cases, changes to cells in or around the eye can lead to cancerous tumors. These can damage your vision and spread to other parts of your body.
Your healthcare provider may recommend surgery to remove the tumor if it is malignant. They can also use a fine needle aspiration or incisional biopsy to test the tissue for cancer cells.
Some non-cancerous (benign) tumors in the eye are associated with neurofibromatosis, including choroidal hemangiomas and dermoid cysts. These often do not cause symptoms. The causes of these benign tumors are unknown. However, they are often hereditary. They can enlarge with time and are associated with other conditions like rubber bleb nevus syndrome and Maffucci syndrome.
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A genetic condition that affects the nerves and skin. It causes benign (not cancer) tumors to grow on and under the skin, and sometimes along the nerves. There are two main types of NF: NF1 and NF2. A third, called Schwannomatosis, is much rarer.
People with NF1 often have problems with their eyes and ears. They might have hearing loss or a curved spine (scoliosis). They also might have Lisch nodules in their iris and neurofibromas. Some have a higher risk of high blood pressure, and some may get kidney or heart problems.
A healthcare provider can diagnose NF with a physical exam and tests. They’ll check for things like cafe au lait spots and freckles, and neurofibromas. They’ll also look at your family medical history. You might need to have regular exams, every 6 to 12 months, to watch for symptoms.
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Neurofibromatosis (nf) is a genetic condition that can cause changes to the skin and tumors on nerve tissue. These are usually not cancerous, but they may compress nerves or other tissues and lead to complications like blindness or spinal cord problems.
Symptoms of neurofibromatosis depend on where the tumors grow in your body. They can also vary from person to person. They are usually mild but can be severe, and they often get worse over time.
Neurofibromatosis type 1 (NF1) affects around 3,000 people in the UK each year. The rarer NF2 is much less common and causes different symptoms. It’s important to have regular check-ups to find and treat any new problems as they happen.