Table 1 Demografic and clinical characteristics of the 114 patients with NF1 included in the study.
Feature | Mild phenotype (n = 31) | Moderate (n = 39) | Severe phenotype (n = 44) | Whole cohort (n = 114) |
|---|---|---|---|---|
Mean age (average) ± SD | 13 ± 6.0 years (2–22 years) | 12 ± 6.9 years (2–22 years) | 12.3 ± 5.9 years (1–23 years) | 11.9 ± 5.6 years (1–23 years) |
No mutation | N = 8 | N = 8 | N = 8 | N = 24 |
Gender | M = 12; F = 19 | M = 13; F = 26 | M = 20; F = 24 | M = 45; F = 69 |
CALMs | 31 (100%) | 39 (100%) | 44 (100%) | 114 (100%) |
Lisch nodules | 11 (35.4%) | 20 (51. 3%) | 25 (56.8%) | 56 (49.1%) |
Axillary and/or inguinal freckling | 23 (74.2%) | 33 (84.6%) | 33 (75%) | 89 (78%) |
Plexiform neurofibroma | 0 (0.0%) | 6 (15.3%) | 9 (20.4%) | 15 (13.2%) |
Mild non-progressive scoliosis | 12 (38.7%) | 18 (46.1%) | NA | 4 40 (35.1%) |
Progressive scoliosis | 0 (0.0%) | 14 (35.9%) | 25 (56.8%) | 39 (34.2%) |
Heart involvement | 4 (12.9%) | 7 (17.9%) | 12 (27.3%) | 23 (20.2%) |
OPG | 0 (0.0%) | 0 (0.0%) | 27 (61.4%) | 27 (23.6%) |
Other tumors | 0 (0.0%) | 0 (0.0%) | 17 (38.6%) | 17 (14.9%) |
Development delay and/or cognitive deficit | 0 (0.0%) | 0 (0.0%) | 28 (63.6%) | 28 (24.5%) |
