A genetic disorder known as neurofibromatosis type 1 (NF1) causes nerve tissue tumors to grow. The tumors can affect the skin, the eyes, the ears, the spine, or the brain. About one out of every 3,000 people are affected by NF1. NF1 is characterized by a wide range of symptoms and complications depending on its stage and location. Surgery, chemotherapy, radiation, and medication can be used to treat NF1. NF1's prognosis depends on several factors, such as the type and size of the tumor, the patient's age, and the treatment response.
NF1 is caused by mutations in the NF1 gene, which is found on chromosome 17. The gene produces a protein known as neurofibromin, which controls cell division and growth. Neurofibromin is either missing or not functioning properly when the NF1 gene is mutated, which causes nerve cells to grow uncontrollably and tumors to develop. NF1 is inherited from a parent with the disorder, while other people develop it spontaneously. Mutations can occur in any cell of the body, but the nervous system is more likely to be affected.
Some people with NF1 have mild or no symptoms, while others have severe or life-threatening complications. These are some common symptoms of NF1:
NF1 is characterized by flat, light brown spots on the skin (cafe au lait spots). These harmless spots appear at birth or during childhood. After childhood, new spots stop appearing.
Usually appears in the armpits or snout area by the age of 3 to 5. Freckles are smaller than cafe au lait spots and usually occur in clusters.
These harmless nodules appear on the iris of the eye and aren't visible to the naked eye. They are usually present by age 10 and increase in number as the person ages.
There are soft, pea-sized bumps on or under the skin (neurofibromas). These benign tumors usually grow in or under the skin, but they can also occur inside of the body. Sometimes the growth involves many nerves (plexiform neurofibroma). When plexiform neurofibromas are present on the face, they can cause disfigurement. Neurofibromas may become more prevalent as you age. Sometimes, they can turn malignant (cancerous).
A deficiency of bone mineral density or abnormal bone growth can result in bone deformities such as a curved spine (scoliosis) or a bowed lower leg. These deformities can affect a person's growth and posture.
It is possible for people with NF1 to have problems with learning, attention, memory, or language. These difficulties can affect their academic and social performance.
Some people with NF1 develop a tumor on the optic nerve, which connects the eye to the brain. This tumor, called an optical glioma, causes vision loss, eye pain, or bulging eyes.
A tumor on the adrenal gland, which produces hormones that regulate blood pressure, is common in people with NF1. The tumor, called pheochromocytoma, causes high blood pressure, headaches, sweating, or palpitations. Pheochromocytomas usually occur in adulthood and are rare.
Doctors diagnose NF1 through a medical history, physical examination, and genetic testing. They may ask about the symptoms, the onset and duration of the symptoms, and the family history of the patient. A doctor may also examine the patient and look for signs of tumors, including lumps, swelling, or nerve damage.
Genetic testing can confirm the diagnosis and identify the mutation in the NF1 gene. Genetic testing can also help determine the risk of passing the disorder on to the offspring. It is not always necessary or accessible to undergo genetic testing, and some people with NF1 may not have a detectable mutation.
In order to make a definite diagnosis, a person must have the following:
There are two or more of the following signs
A family history of NF1 and one or more of the following signs:
There are at least six cafes au lait
The presence of two or more neurofibromas or one plexiform neurofibroma
Armpits or groins tingling
Bone lesion, usually in long bones or skull bones
There are two or more Lisch nodules
Glioma optical
NF1 is caused by a mutation in the NF1 gene
Treatment of NF1 depends on the type, location, and size of the tumor, as well as the age, health, and preferences of the patient.
Prevent or reduce the complications and symptoms caused by the tumor by removing or shrinking it
Assess the person's growth and development, and address any learning or behavioral issues
Enhance the quality of life of the individual by providing emotional and social support
NF1 can be treated with the following options:
As part of surgery, the tumor and surrounding tissues or organs may be removed. Surgery can be performed alone or in conjunction with other treatments, such as chemotherapy or radiation. During surgery, the affected area may be improved in appearance, function, or symptoms, but it may also result in scarring, nerve damage, or infection.
Using drugs to kill or stop the growth of cancer cells is called chemotherapy. If a tumor cannot be removed by surgery or has spread to other parts of the body, chemotherapy may be used as a primary treatment before or after surgery. Chemotherapy can be ingested, injected, or infused.
In radiation therapy, high-energy rays or particles are used to damage or destroy cancer cells. It can be used before or after surgery, or as a primary treatment for tumors that cannot be removed by surgery or have spread. Radiation therapy can be applied externally or internally.
Medications are used to control the symptoms and complications of a tumor, such as pain, high blood pressure, or hormone imbalances.
In physical therapy, exercises are used to improve movement, strength, or function of the affected limbs or organs. Physical therapy may also help prevent or correct deformities or complications caused by tumors or treatments.
Assisting the person with daily tasks and activities, such as dressing, eating, and working, by using activities or devices. A person who has a disorder or receives treatment may also benefit from occupational therapy because it may help them cope with physical, mental, or emotional challenges.
The purpose of speech therapy is to improve a person's speech, language, or swallowing abilities. It may also help the person communicate better and express their feelings.
The purpose of educational support is to give the person special education, tutoring, or counseling to help them learn and achieve their academic goals. This may also be used to help them develop their social and emotional skills and self-esteem.
Assisting the person cope with stress, anxiety, or depression caused by the disorder or treatment by counseling, therapy, or support groups. The person may also be able to cope with body image, identity, and relationship issues with psychological support.
NF1 is not preventable, as its cause is unknown. However, there are some ways to reduce the risk of developing NF1 or its complications, including:
Regular checkups and screening tests to detect tumor growth or complications
If you notice any signs or symptoms of tumor growth or complications, seek medical attention right away
Taking prescribed medications or treatments as directed by your doctor
Radiation or chemicals that may damage nerve cells' DNA should be avoided
Testing and genetic counseling before planning a pregnancy to determine the risk of passing the disorder on
