Neurofibromatosis Type 1

Diagnosis

A team of Mayo Clinic doctors trained in nervous system conditions (neurologists), doctors trained in skin conditions (dermatologists) and other doctors works together to evaluate your condition.

To diagnose neurofibromatosis type 1, your doctor will review and discuss your medical history, your family medical history and your symptoms. Your doctor will perform a physical examination and check for several signs and symptoms of neurofibromatosis type 1, including skin spots or abnormalities, tumors and others. Your doctor may use a special lamp to detect skin spots or abnormalities.

Your doctor also may conduct other tests to evaluate your condition or to detect tumors. Imaging specialists (radiologists) may conduct detailed imaging tests to locate tumors or other conditions.

Your doctor may order tests including:

• Genetic testing. Your doctor may conduct genetic testing to help confirm your diagnosis. Your family members also may be tested for the condition. Genetic testing also may be performed for women who are pregnant (prenatal testing).
• Imaging tests. Imaging tests, including magnetic resonance imaging (MRI), CT scans, or X-rays, provide detailed views of your body. Your doctor may order these tests to locate tumors or other abnormalities resulting from your condition.
• Vision tests. An eye doctor (ophthalmologist) may examine your eyes for small bumps (Lisch nodules) common in neurofibromatosis type 1.

Read more about genetic testing, magnetic resonance imaging (MRI), CT scans and eye tests at MayoClinic.com.