The NF1 patient should fulfil 2 or more of the following criteria: | |
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Six or more café au lait macules | |
Diameter | ⩾1.5 cm in postpubertal subjects |
⩾0.5 cm in prepubertal subjects | |
Two or more neurofibromas of any type or one plexiform neurofibroma | |
Multiple freckles in the axillary area or groin | |
Optic glioma | |
Two or more Lisch nodules (iris hamartomas) | |
A distinct osseous lesion such as sphenoid dysplasia or thinning of the bone cortex with or without pseudarthrosis | |
A first degree relative (parent, sib, or offspring) who meets the above criteria for NF1 |