Table 1.

NIH Diagnostic Criteria for NF1

Cardinal Clinical Features (Any Two or More Are Required for Diagnosis)1
6 or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
2 or more neurofibromas of any type or 1 plexiform neurofibroma
Freckling in the axillary or inguinal regions
Optic glioma
2 or more Lisch nodules (iris harmartomas)
A distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis
A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria