Total | Pigmentary changes only | Pigmentary changes and neurofibromas | Neurofibromas only | Plexiform neurofibromas only | |
---|---|---|---|---|---|
Patients, n | 17 | 8 | 2 | 5 | 2 |
Females, n (%) | 11 (64.7%) | 6 (75%) | 1 (50%) | 3 (60%) | 1 (50%) |
Median age, y [range] | 37 [4;83] | 18 [4;37] | 59 [51;66] | 56 [37;83] | 37 [33;40] |
Median age at MNF1 diagnosis, y [range] | 25 [1;77] | 9 [1;16] | 54 [46;61] | 40 [29;77] | 28 [25;31] |
CAL spots, in number of patients (%) | 8 (100%) | 2 (100%) | 0 | 0 | |
Head and neck, n (%) | 1 (12.5%) | – | – | – | |
Trunk, n (%) | 7 (87.5%) | 2 (100%) | – | – | |
Upper extremities, n (%) | 2 (25%) | – | – | – | |
Lower extremities, n (%) | 5 (62.5%) | 1 (50%) | – | – | |
Pelvic area, n (%) | 3 (37.5%) | – | – | – | |
Size of largest CAL spot (mm), median [range] | 50 [13;150] | 15 | – | – | |
Freckling, in number of patients (%) | 5 (62.5%) | 0 | 0 | 0 | |
Axillary unilateral, n (%) | 4 (50%) | – | – | – | |
Inguinal unilateral, n (%) | 1 (12.5%) | – | – | – | |
Neurofibromas, in number of patients (%) | – | 1 (50%) | 5 (100%) | 0 | |
Head and neck, n (%) | – | – | 1 (20%) | – | |
Trunk, n (%) | – | 1 (50%) | 4 (80%) | – | |
Lower extremities, n (%) | – | – | 2 (40%) | – | |
Pelvic area, n (%) | – | – | 2 (40%) | – | |
Size of largest neurofibroma (mm), median [range] | – | 4 | 40 [4;50] | – | |
Plexiform neurofibromas, in number of patients (%) | 0 | 1 (50%) | 2 (40%) | 2 (100%) | |
Head and neck, n (%) | – | – | – | 2 (100%) | |
Lower extremities, n (%) | – | 1 (50%) | 1 (20%) | – | |
Pelvic area, n (%) | – | – | 2 (40%) | – | |
Median age by detecting of plexiform neurofibroma, y [range] | – | 60 | 35 [30;40] | 17 [14;20] | |
Lisch nodules, in number of patients (%) | 1 (12.5%) | 1 (50%) | 0 | 0 | |
Unilateral, n (%) | 0 | 0 | – | – | |
Bilateral, n (%) | 1 (100%) | 1 (50%) | – | – | |
NF1 associated complications, in number of patients (%) | 4 (50%)* | 1 (50%)** | 4 (80%)*** | 0 |