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 |