Table 1 Cohort characteristics of 214 respondents with epidermolysis bullosa simplex (EBS)
Characteristic | All, No. (%) (n = 214) |
|---|---|
Mean age (SD) | 32.8 (19.2) |
< 18 years | 59 (27.6) |
≥ 18 years | 155 (72.4) |
Sex | |
Male | 76 (35.5) |
Female | 138 (64.5) |
Location | |
North America | 151 (70.6) |
Europe | 49 (22.9) |
Asia/Australia | 8 (3.7) |
South America | 4 (1.9) |
Africa | 2 (0.9) |
Race/Ethnicity | |
White (non-Hispanic) | 178 (83.2) |
Asian | 8 (3.7) |
Black | 5 (2.3) |
Hispanic | 4 (1.9) |
Middle Eastern | 2 (0.9) |
Multiracial | 11 (5.1) |
Other or not answered | 6 (2.8) |
EBS subtype | |
Localized | 94 (43.9) |
Intermediate | 9 (4.2) |
Severe | 26 (12.1) |
Othera | 4 (1.9) |
Unsure which EBS subtype | 81 (37.9) |
Self-reported disease severity | |
Mild | 82 (38.3) |
Moderate | 100 (46.7) |
Severe | 21 (9.8) |
Unsure or not answered | 11 (5.1) |
Age of EBS diagnosis | |
Prenatal | 8 (3.7) |
Birth to 11 months | 128 (59.8) |
1 to 9 years | 45 (21.0) |
≥ 10 years | 24 (11.2) |
Unsure or not answered | 9 (4.2) |
Method of diagnosisb | |
Genetic testing | 25 (11.7) |
Skin biopsy | 48 (22.4) |
Clinical diagnosis | 121 (56.5) |
Prenatal testing | 3 (1.4) |
Family history | 11 (5.1) |
Other, unsure, or not answered | 6 (2.8) |
Diagnostic confirmation with genetic testing or skin biopsyb | 63 (29.4) |
Family History of EB | |
First-degree relative diagnosed with EB | 137 (64.0) |
First-degree relative tested for EB | 77 (36.0) |