Table 1.

Diagnostic criteria for NF1 (two or more must be present)

1. Six or more CAL macules, the greatest diameter of which is more than 5 mm in prepubertal patients and more than 15 mm in postpubertal patients
2. Two or more neurofibromas of any type, or one plexiform neurofibroma
3. Axillary or inguinal freckling
4. Optic glioma
5. Two or more Lisch nodules
6. A distinctive osseous lesion such as sphenoid dysplasia or pseudarthrosis
7. A first-degree relative with NF1 according to the preceding criteria