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| |
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
|
- *Scoliosis (n = 2), learning disability (n = 1), reading difficulties (n = 1), infantile autism (n = 1), ADHD (n = 1), delayed for age (n = 1), gross and fine motor function delays (n = 1), language delay (n = 1)
- **Scoliosis and language delays (n = 1)
- ***Hypertension (n = 4), learning disability (n = 1)
