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Table 4 Malformations, tumors, and other manifestations in patients with rare manifestations

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

  Tumors and cystic lesions, n (%)
n = 268
Malformations, n (%)
n = 124
Others, n (%)
n = 15
Tumors
n = 248
Cystic lesions
n = 20
Overall
n = 119
Vascular malformations
n = 5
Others*
n = 9
Endocrine dysfunctions
n = 6
Median age at diagnosis, years (range) 28 (0–69) 27 (10–62) 11 (0–50) 24.5 (0–50) 9.5 (0–48) 31.5 (2–48)
Sex Male Female Male Female Male Female Male Female Male Female Male Female
98 (39.5) 150 (60.5) 4 (20) 16 (80) 61 (51.3) 58 (48.7) 1 (20.0) 4 (80.0) 4 (44.4) 5 (55.6) 3 (50) 3 (50)
Mutation type TSC1 TSC2 TSC1 TSC2 TSC1 TSC2 TSC1 TSC2 TSC1 TSC2 TSC1 TSC2
27 (26.2) 76 (73.8) 3 (23.1) 10 (76.9) 8 (14.8) 46 (85.2) 1 (100) 0 1 (14.3) 6 (85.7) 0 3 (100)
Treatment 40 (16.2) 1 (5.0) 26 (21.8) 3 (60.0) 5 (55.6) 4 (66.7)
  1. *Includes patients with laryngomalacia, lymphedema and myositis ossificans