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Self-Assessment Questions


Answer 1
  1. NF1. The most recognizable clinical feature of NF1 is the appearance of café au lait spots. These spots are brownish in color and appear prior to adulthood. Café au lait spots occur in 95% of NF1 patients and are frequently the first indication of this genetic disorder.1 Clinical criteria for the diagnosis of NF1 includes café au lait spots. In addition, optic gliomas also are a frequent manifestation in these patients; there is a 25% incidence of this type of glioma in NF1 patients. Tuberous sclerosis, NF2, Li-Fraumeni syndrome, and Turcot’s syndrome not associated with café au lait spots.

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