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Table 3 Demographics of patients with the ten most common rare manifestations by median age, sex, mutational status, and treatment

From: Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

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
  1. NS, not significant; pNET, pancreatic neuroendocrine tumor