Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1.
These diagnostic criteria can be remembered with the mnemonic:
- CAFE SPOT
Mnemonic
- C: café-au-lait spots (greater than six seen during one year)
- A: axillary or inguinal freckling
- F: fibromas (neurofibroma (two or more) or plexiform neurofibroma (one))
- E: eye hamartomas (Lisch nodules)
- S: skeletal abnormalities, e.g. sphenoid wing dysplasia, leg bowing
- P: positive family history
- OT: optic tumor (optic nerve glioma)
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