| • | these are diseases of the neuro-ectoderm, i.e. diseases of the skin and the nerves (NF1 mostly skin and eyes; NF2 = nerve tumors and minimal skin involvement) (this is my take) |
| • | follow NF1 clinically (JAAD 2003; 49 (September):440-444) |
NF 1 = AKA von Recklinghausen disease
NF 2 = AKA bilateral acoustic neurofibromatosis; central neurofibromatosis
NF 5 = “segmental NF”
need 2 of 7; mnemonic = CAN FOOL
| 1. | café au lait macules (6 or more) |
| 2. | axillary or groin freckling |
| 3. | neurofibromas (2 or more) |
| 4. | first-degree relative with 2 criteria |
| 6. | o – characteristic bony deformities (??) |
| 7. | Lisch nodules present in 100% NF1 patients by age 20 (90% by age 6) |
| earliest sign = CALMS cafe au lait macules |
| pathognomonic signs = Crowe’s sign; plexiform neurofibroma |
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