Table 3 Demographics of patients with the ten most common rare manifestations by median age, sex, mutational status, and treatment
Rare manifestations | Overall, n (%) N = 2311 | Patients with rare manifestation, n (%) N = 382 | Median age at diagnosis, years, n (range) | Sex, n (%) | Mutation, n (%) | Patients who received treatment, n (%) | ||||
|---|---|---|---|---|---|---|---|---|---|---|
Male (n = 159) | Female (n = 223) | p value | TSC1 (n = 39) | TSC2 (n = 124) | p value | |||||
Bone sclerotic foci | 151 (6.5) | 151 (39.5) | 31.5 (0–70) | 59 (39.1) | 92 (60.9) | 0.0166 | 14 (24.1) | 44 (75.9) | NS | 3 (2.0) |
Scoliosis | 88 (3.8) | 88 (23.0) | 13 (0–50) | 45 (51.1) | 43 (48.9) | NS | 6 (15.4) | 33 (84.6) | NS | 20 (22.7) |
Thyroid adenoma | 21 (0.9) | 21 (5.5) | 38.5 (12–69) | 3 (14.3) | 18 (85.7) | 0.0015 | 4 (57.1) | 3 (42.9) | NS | 6 (28.6) |
Adrenal angiomyolipoma | 17 (0.7) | 17 (4.5) | 22.5 (3–45) | 6 (35.3) | 11 (64.7) | NS | 0 | 3 (100) | NS | 5 (29.4) |
pNET | 12 (0.5) | 12 (3.1) | 2111 (9–63) | 5 (41.7) | 7 (58.3) | NS | 2 (28.6) | 5 (71.4) | NS | 8 (66.7) |
Hemihypertrophy | 12 (0.5) | 12 (3.1) | 4.5 (0–49) | 5 (41.7) | 7 (58.3) | NS | 0 | 5 (100) | NS | 1 (8.3) |
Liver cysts | 9 (0.4) | 9 (2.4) | 42 (14–60) | 3 (33.3) | 6 (66.7) | NS | 1 (25.0) | 3 (75.0) | NS | 0 |
Spleen angiomyolipoma | 9 (0.4) | 9 (2.4) | 13 (4–60) | 4 (44.4) | 5 (55.6) | NS | 1 (20.0) | 4 (80.0) | NS | 3 (33.3) |
Ovarian cysts | 8 (0.3) | 8 (2.1) | 16 (9–31) | NA | 8 (100) | 0.0078 | 2 (33.3) | 4 (66.7) | NS | 1 (12.5) |
Lymphedema | 7 (0.3) | 7 (1.8) | 21 (0–48) | 3 (42.9) | 4 (57.1) | NS | 1 (16.7) | 5 (83.3) | NS | 4 (57.1) |
Liver angiomyolipoma | 6 (0.3) | 6 (1.6) | 29 (16–53) | 1 (16.7) | 5 (83.3) | NS | 0 | 3 (100) | NS | 0 |