Neurofibromatosis 1
Neurocutaneous Syndromes
NF-1
Diagnostic criteria:
2 or more
NF-1
Diagnostic criteria:
2 or more
- Six or more café-au-lait macules: >5 mm (longest diameter) in prepubertal, >15 mm in postpubertal
- Two or more neurofibromas of any type or one plexiform neurofibroma
- Freckling in the axillary or inguinal regions
- Two or more Lisch nodules (iris hamartomas)
- Optic glioma
- A distinctive bony lesion, such as sphenoid dysplasia or thickening of the long bone cortex with or without pseudoarthrosis.
- A first-degree relative (parent, sibling, or offspring) with NF1 based upon the above criteria.