Table 2.
Clinical profile of patients with clinical diagnosis of neurofibromatosis 1 in this study.
| Neurofibromatosis 1 Diagnostic Criteria1 | Presence of the changes/evaluated | % |
|---|---|---|
| Café-au-lait spots (>1,5 cm) | 33/45 | 73.3 |
| Two or more cutaneous neurofibromas | 37/45 | 82.2 |
| Plexiform neurofibroma2 | 17/45 | 37.8 |
| Axillary freckling or freckling in inguinal regions | 43/45 | 95.5 |
| Optic pathway gliomas | 1/45 | 2.2 |
| Two or more Lisch nodules | 20/233 | 87.0 |
| Sphenoid wing dysplasia | 2/304 | 6.7 |
| Pseudoarthrosis | 1/45 | 2.2 |
| First-degree relative with neurofibromatosis 1 | 33/445 | 75.0 |
1National Institute of Health Consensus Development Conference Statement: Neurofibromatosis Bethesda, 1988.
2Only cases confirmed by biopsy.
3Twenty-two patients did not attend the appointment with the ophthalmologist for personal reasons.
4Fifteen patients did not attend the performance of the RX for personal reasons, but none had evidence of sphenoid bone dysplasia.
5One person was adopted and was unaware of this information.