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Table 3. 126 Cases from three case series presented in total and individual articles

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

Total [10, 21, 22]
 Number of patients n = 126
 Mean age, years Mean age = 16.44 ± 0.6 years
 Females, n (%) 76 (60%)
 Four categories Pigmentary changes only (n = 79), neurofibromas only (n = 14), pigmentary changes and neurofibromas (n = 15), plexiform neurofibromas only (n = 18)
 NF1-associated complications language delay (n = 1), learning disability (n = 7), ADHD (n = 3), skeletal abnormalities [11] and intracranial vasculopathy (n = 1)
Lara-Corrales et al. [21]
 Number of patients n = 60
 Recruited from Hospital for Sick Children, Toronto, Canada, in 1992–2012
 Mean age, years Mean age = 10.6 ± 4.6 years
 Females, n (%) 32 (53%)
 Four categories Pigmentary changes only (n = 39), neurofibromas only (n = 9), pigmentary changes and neurofibromas (n = 2), plexiform neurofibromas only (n = 10)
 NF1-associated complications Learning disability (n = 7), bony changes (n = 6), seizures (n = 1)
Tanito et al. [10]
 Number of patients n = 58
 Recruited from The Jikei University Hospital, in 2004–2007, and at the Jikei University Daisan Hospital, in 2007–2011
 Mean age, years Mean age = 23.4 [1;69] years
 Females, n (%) 42 (72%)
 Four categories Pigmentary changes only (n = 32), neurofibromas only (n = 5), pigmentary changes and neurofibromas (n = 13), plexiform neurofibromas only (n = 8)
 NF1-associated complications Bone deformity (n = 3), language delay (n = 1)
Marwaha et al. [22]
 Number of patients n = 8
 Recruited from Hospital for Sick Children, Toronto, Canada. Years unknown
 Mean age, years Mean age = 9.8 [1;16] years
 Females, n (%) 2 (25%)
 Four categories Pigmentary changes only (n = 7), neurofibromas only (n = 0), pigmentary changes and neurofibromas (n = 1), plexiform neurofibromas only (n = 0)
 NF1-associated complications Sphenoid wing dysplasia (n = 1), intracranial vasculopathy (n = 1), tibial rotation (n = 1), ADHD (n = 3)
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