How is neurofibromatosis diagnosed?
How is neurofibromatosis diagnosed?
A physical examination by a doctor familiar with the disorder is usually performed. Doctors may use special lamps to examine the skin for café-au-lait spots. Doctors may also rely on magnetic resonance imaging (MRI), X-rays, computerized tomography (CT scan) and blood tests to detect defects in the NF1 gene.
Does 6 café-au-lait spots mean neurofibromatosis?
Although these colored spots on the skin can be harmless, having six or more café au lait spots with freckles under the arm or around the groin could indicate an underlying genetic problem called neurofibromatosis type 1. This is a disorder that can affect the skin, nerves, and eyes.
How are café-au-lait spots diagnosed?
No specific medical tests are available to diagnose café au lait spots. Doctors can usually make a diagnosis based on a physical examination and the appearance of the skin patches. If you have one to three spots, your doctor may determine there’s no need for further testing.
Can multiple café-au-lait spots be normal?
Café-au-lait (CAL) spots are benign (noncancerous), harmless and will not affect your child’s body. If your child has more than six CAL spots, visit your healthcare provider because multiple CAL spots can be a sign of an underlying genetic condition.
How do you diagnose an NF1 diagnosis?
Your child’s doctor will look for signs of NF1 in your child’s skin, eyes, bones or brain. The second method is genetic testing, also called a molecular or DNA diagnosis. Your child will need to give a blood sample. A lab will check the sample for a change (mutation) in the NF1 gene.
How is neurofibromatosis type 2 diagnosed?
How is neurofibromatosis type 2 (NF2) diagnosed?
- Magnetic resonance imaging (MRI) scan of the brain and spinal cord to determine the location of the tumors.
- Hearing tests.
- Vision tests.
- Genetic testing.
What age is neurofibromatosis diagnosis?
Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.
How do I know if my baby has neurofibromatosis?
Light brown spots on the skin called café-au-lait spots. These are the most common signs of NF, and they often appear at birth or in the first years of life. They’re harmless, but if your child has more than six, she probably has NF1. Freckles in the armpits or groin area also are signs of NF1.