Table 1.
The difference between NF1 and NF5.
| Features | Von Recklinghausen disease (NF1) | Segmental neurofibromatosis (NF5) |
|---|---|---|
| Inheritance | Autosomal dominant | Non inheritable. The disease occurs due to postzygotic somatic mutation. |
| Prevalence | 1 in 2500–3300 | 1 in 36,000–40,000 |
| Family history | Almost always present | Mostly absent |
| Transmission to offspring | Present, due to autosomal dominant inheritance with complete penetrance and variable expressivity | Extremely rare. In some, gonadal mosaicism may occur and transmit the disease. |
| Involvement | Generalized and bilateral | Localized and unilateral |
| Café au lait macules and axillary freckling | + | +∖- |
| Cutaneous neurofibroma | +∖- | +∖- |
| Plexiform neurofibroma | +∖- | +∖- |
| Lisch nodules | + | – |
| Systemic involvement | + | – |
| Risk of associated malignancies | 5–15% | 5.3% |