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Table 1 Demographics of patients with epidermolysis bullosa as reported by patients and caregivers in the survey

From: The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Characteristic

Patient-reported

Caregiver-reported

Overalla

N = 63

Simplex

n = 21

Junctional n = 8

Dominant dystrophic

n = 14

Recessive dystrophic

n = 19

Overalla

N = 93

Simplex

n = 34

Junctional

n = 7

Dominant dystrophic n = 17

Recessive dystrophic n = 34

Sex, n (%)

 Male

16 (25.4)

3 (14.3)

4 (50.0)

2 (14.3)

7 (36.8)

51 (54.8)

21 (61.8)

4 (57.1)

11 (64.7)

14 (41.2)

 Female

47 (74.6)

18 (85.7)

4 (50.0)

12 (85.7)

12 (63.2)

42 (45.2)

13 (38.2)

3 (42.9)

6 (35.3)

20 (58.8)

Age at survey, years, median (range)

32 (18–70)

37 (18–67)

33 (19–63)

31 (19–60)

30 (18–70)

7 (0.2–59)

5 (0.2–59)

13 (0.3–24)

6 (0.3–45)

7 (0.3–56)

Age at first symptoms, years, median (range)

0.0 (0–5)

0.0 (0–5)

0.0 (0–4)

0.0 (0–5)

0.0 (0–0)

0.0 (0–1)

0.0 (0–1)

0.0 (0–0.1)

0.0 (0–0.5)

0.0 (0–0.1)

Age at diagnosis, years, median (range)

0.0 (0–55)

0.5 (0–55)

0.3 (0–6)

0.0 (0–5)

0.0 (0–30)

0.0 (0–3)

0.1 (0–1)

0.1 (0–1.2)

0.1 (0–3)

0.0 (0–3)

Time between symptoms and diagnosis, years, median (range)

0.0 (0–50)

0.1 (0–50)

0.0 (0–2)

0.0 (0–5)

0.0 (0–30)

0.0 (0–3)

0.0 (0–0.5)

0.0 (0–1.1)

0.0 (0–3)

0.0 (0–3)

Method of diagnosis, n (%)b

 Skin biopsy

29 (46.0)

11 (52.4)

4 (50.0)

5 (35.7)

8 (41.2)

48 (51.6)

13 (38.2)

6 (85.7)

6 (35.3)

22 (64.7)

 Genotyping

4 (6.3)

0

0

2 (14.3)

2 (10.5)

23 (24.7)

10 (29.4)

1 (14.3)

2 (11.8)

10 (29.4)

 Physician exam

12 (19.0)

5 (23.8)

1 (12.5)

2 (14.3)

4 (21.1)

15 (16.1)

8 (23.5)

2 (28.6)

2 (11.8)

3 (8.8)

 Family history

6 (9.5)

1 (4.8)

0

4 (28.6)

1 (5.3)

11 (11.8)

7 (20.6)

0

2 (11.8)

2 (5.9)

 Unknown

24 (38.1)

8 (38.1)

4 (50.0)

5 (35.7)

7 (36.8)

18 (19.4)

6 (17.6)

0

8 (47.1)

4 (11.8)

 Otherc

0

0

0

0

0

8 (8.6)

3 (8.8)

1 (14.3)

1 (5.9)

3 (8.8)

  1. aTwo patients (1 self-reported and 1 caregiver-reported) had another type or unknown type of epidermolysis bullosa. bRespondents could select more than 1 method. cOne of each of the following “other” responses were provided: all skin on hands, legs, and arms was peeled back at birth; amniocentesis prior to birth; biopsy done incorrectly; blood work; electron microscopy; genetic testing; immuno-mapping; inherited; and adopted at 18 months