Summary for Physicians
NF1 is predominantly diagnosed in early childhood, typically between ages 4 and 6. Diagnosis is based on NIH clinical criteria, which include: ≥6 café-au-lait macules, ≥2 neurofibromas or 1 plexiform neurofibroma (PN), axillary or inguinal freckling, optic glioma, ≥2 Lisch nodules, characteristic osseous lesions, or a first-degree relative with NF1. Genetic testing may aid in unclear cases.
Globally, NF1 affects approximately 1 in 3000 individuals. Plexiform neurofibromas (PN), a subtype of NF1-associated tumors, occur in up to 50% of patients with NF1. There is no known racial or geographic predisposition; all individuals with an NF1 mutation are at risk for developing PNs.
