Table 1.
Phenotypic characteristics of patients with tuberous sclerosis complex in this study.
| Characteristic | All (N = 30) | TSC1 (N = 4) | TSC2 (N = 23) | NMI (N = 3) | |
|---|---|---|---|---|---|
| Median age, years (range) | 24 (14–28) | 21.5 (16.3–28) | 22 (11.3–27.3) | 34 (30.5–39.5) | |
| Gender | Male (%) | 12 (40.0) | 1 (25.0) | 11 (47.8) | 0 (0) |
| Female (%) | 18 (60.0) | 3 (75.0) | 12 (52.1) | 3 (100) | |
| Hypomelanotic macules (%) | 9 (30.0) | 2 (50.0) | 6 (26.1) | 1 (33.3) | |
| Angiofibromas (%) | 20 (66.7) | 1 (25.0) | 17 (73.9) | 2 (66.7) | |
| Ungual fibromas (%) | 9 (30.0) | 1 (25.0) | 7 (30.4) | 1 (33.3) | |
| Shagreen patch (%) | 5 (17.2) | 1 (33.3) | 4 (17.4) | 0 (0) | |
| Multiple retinal hamartomas (%) | 7 (23.3) | 0 (0) | 7 (30.4) | 0 (0) | |
| Cortical tuber (%) | 26 (86.7) | 4 (100) | 21 (91.3) | 1 (33.3) | |
| SEN (%) | 26 (86.7) | 4 (100) | 21 (91.3) | 1 (33.3) | |
| SEGA (%) | 4 (13.3) | 1 (25.0) | 3 (13.0) | 0 (0) | |
| Cardiac rhabdomyoma (%) | 6 (20.0) | 0 (0) | 6 (26.1) | 0 (0) | |
| LAM (%) | 11 (36.7) | 1 (25.0) | 8 (34.8) | 2 (66.7) | |
| AML (%) | 26 (86.7) | 3 (75.0) | 20 (87.0) | 3 (100) | |
| Renal cyst (%) | 12 (40.0) | 4 (100) | 8 (34.8) | 0 (0) | |
| AML maximum diameter, cm, median (range) | 3.6 (2.0–8.9) | 1.7 (0.8–3.7) | 3.4 (2.1–8.9) | 9 (8.7–10.3) | |
AML angiomyolipoma, LAM Lymphangiomyomatosis, NMI no mutation identified, SEGA subependymal giant cell astrocytoma, SEN subependymal nodule.