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Table 1 Demographic and genetic characteristics of EB patients

From: Epidermolysis Bullosa in children: the central role of the pediatrician

EB major types

EBS

JEB (all)

JEB (severe)

DEB

Total

31

21

8

108

Male, no. (%)

17 (54.8)

9 (42.9)

2 (25)

50 (46.3)

Female, no. (%)

14 (45.2)

12 (57.1)

6 (75)

58 (53.7)

Age

Median, years (range)

0.88 (0–26)

0.09 (0–41.23)

0.08 (0–41.23)

4.67 (0–43.33)

Mean ± SD, years

4.37 ± 7.14

9.26 ± 17.30

9.93 ± 18.26

11.61 ± 13.48

Follow-up

Median, years (range)

1.35 (0–19.0)

0 (0–6.6)

0 (0–3,9)

1.39 (0 - 21.9)

Mean ± SD, years

3.67 ± 4.76

1.25 ± 2.15

0.98 ± 1.81

3.22 ± 4.49

BMI or W/H percentiles

<3°

4/29 (14)

3/29 (10%)

1/3 (34 of all JEB)

22/29 (76)

3-10°

4/32 (13)

0/32 (0%)

0/0 (0 of all JEB)

28/32 (87)

>10°

19/75 (25)

14/75 (19%)

5/14 (36 of all JEB)

42/75 (56)

Mutated genes

KRT14, n (%)

5 (16.1)

0

0

0

KRT5, n (%)

2 (6.5)

0

0

0

KLHL24, n (%)

2 (6.5)

0

0

0

EXPH5, n (%)

1 (3.2)

0

0

0

KRT5, n (%)

1 (3.2)

0

0

0

LAMA3, n (%)

0

3 (13%)

3 (37.5)

0

LAMB3, n (%)

0

2 (8.7%)

1 (20)

0

LAMC2, n (%)

0

1 (4.3%)

1 (20)

0

COL17A1, n (%)

0

3 (13%)

0

0

ITGB4, n (%)

0

1 (4.3%)

0

0

COL7A1, n (%)

0

0

0

27 (25)

PLEC, n (%)

2 (6.5%)

0

0

0

  1. Bold denotes either absolute numbers or significant p-values