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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)