Neurofibromatosis

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Diagnosis


Family history, physical examination for clinical signs of the disease (e.g., multiple cutaneous and subcutaneous lesions), and magnetic resonance imaging (MRI) are used to diagnose neurofibromatosis Diagnosis can be confirmed through genetic testing.


Physical Examination

Six or more flat areas of hyperpigmentation on the skin (cafe au lait spots) are the most common clinical sign of NF. These spots usually appear by 2 years of age and increase in number over time. ...Read the full article