Neurofibromatosis 1 : Diagnostic Criteria


Comments:
The diagnosis of neurofibromatosis 1 requires the presence of at least 2 or more of the following 7 diagnostic criteria as proposed by NIH. The diagnosis may be delayed until late childhood or adolescence due to the late appearance of some of these signs.
- Six or more cafe-au-lait spots >5 mm in size (prepubertal) and >15 mm in size postpubertal
- Axillary or inguinal freckles (>2 freckles)
- Two or more typical neurofibromas or one plexiform neurofibroma
- Optic Nerve Glioma
- Two or more iris hamartomas (Lisch nodules)
- Sphenoid dysplasia or typical long-bone abnormalities such as pseudoarthrosis
- First-degree relative (eg parent, sibling, offspring) with NF 1
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