Neurofibromatosis causes tumors to grow on a child’s nerve tissue, producing skin and bone abnormalities. Neurofibromatosis is usually diagnosed in children between the ages of 3 to 16, and severe cases are found in infants. The severity of the disease varies and some children have mild symptoms while others may be severely disabled.
Neurofibromatosis can be hereditary and passed through the parents’ genes. It can also be caused by a spontaneous change in the genetic makeup of the egg or sperm at conception. The disease can affect the brain, spinal cord, nerves, skin and other systems in the body. Because this disease causes tumors to grow directly on the nerve tissue, as they grow they press on various areas of the body causing issues in how the body functions.
There are two types of neurofibromatosis:
NF1: This type is the most common, occurring in one of 4,000 births. This is also known as von Recklinghausen disease.
NF2: This form of neurofibromatosis is much more rare and affects one in 50,000 births. Children diagnosed with NF2 usually develop tumors on nerves in their ears, causing hearing loss and potential deafness and balance issues.
Symptoms of Neurofibromatosis
NF1 is usually diagnosed in younger children and some of the symptoms may include:
- Lightly brown colored spots on the skin, also known as café-au-lait spots
- Tumors on, under or hanging off the skin
- Small noncancerous tumors on the iris, the colored section of the eye
- Freckling in the folds of the skin in the armpit and groin area
- Skeletal abnormalities including scoliosis, or curvature of the spine, and the overgrowth of bones in the arms or lower leg
- Learning disabilities
- Larger than average head size
- Short stature
NF2 is generally not diagnosed until a child is in their late teens or early twenties. The main symptoms are:
- Hearing loss
- Constant ringing in the ears
- Headache
- Facial pain
- Weakness and loss of balance
Diagnosing Neurofibromatosis
Usually, diagnosing neurofibromatosis is based upon a combination of symptoms. To diagnose NF1 your child must exhibit at least two of the following symptoms:
- A minimum of five Café-au-lait spots with a specific size and location
- Appearance of two or more tumors, often resembling the size of a pea on the skin
- Tumors on the iris
- Specific skeletal abnormalities
- A family member with NF1
- Freckling under the arm or groin
Additional tests may be ordered by your child’s doctor to confirm the diagnosis. These tests may include:
X-rays/MRIs: X-rays or MRIs may be used to screen for tumors or any skeletal abnormalities.
Head measurement: Because some symptoms of NF include a larger head circumference, your child’s doctor may measure their head and compare against the percentile of children their age.
Diagnosing NF2 will involve testing for any hearing loss. In addition, the following can be done:
Imaging: X-rays and CT scans can be used to detect tumors in the nerves of the ears, spinal cord or brain.
Family history: Another factor in diagnosing NF2 would be determining if a family member has the disease.
Genetic Testing: Testing the mother while pregnant is a way to diagnose both types of neurofibromatosis.
Treatments offered for Neurofibromatosis
Shriners Hospitals for Children® offers treatments plans for both NF1 and NF2.
Treatments may include:
Regular monitoring: Because the range of age is so varied for NF1, your child’s doctor may monitor their overall medical health and look for the following during their routine physical examinations:
- Assess skin for additional tumors or changes in existing tumors
- Check blood pressure
- Evaluation of growth and development, including height, weight and head circumference
- Evaluation of any skeletal abnormalities or changes
- Assess school progress
- Complete eye examination
Bracing: Since some children diagnosed with NF1 may also have scoliosis, a back brace may be recommended.
Surgery: In many cases, surgery is a treatment option to remove all or sections of tumors that may be pressing on tissues or organs. The removal of these tumors often provides relief of some systems.
Other surgical procedures may be required and, depending upon the type of neurofibromatosis and the severity of symptoms, you and your child’s doctor can explore further treatment options.