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Table 1 The MNF1 cohort from Centre for Rare Diseases (n = 17)

From: Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

  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
  1. *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)
  2. **Scoliosis and language delays (n = 1)
  3. ***Hypertension (n = 4), learning disability (n = 1)
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