Table 1

NIH diagnostic criteria in neurofibramatosis type 1 (NF1). Two or more of the criteria are necessary for a diagnosis of NF1

Clinical signs
Six or more café au lait spots over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
Two or more neurofibromas of any type or one or more plexiform neurofibroma
Freckling in the axillary or inguinal region
Optic or chiasma glioma
Two or more Lisch nodules (iris hamartomas)
A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without bowing and pseudoarthrosis
Family history
A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria