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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)