Table 1 Demographic and baseline clinical characteristics

Age (years)

 Mean (SD)

18.3 (18.1)

29.1 (17.9)

19.1 (10.9)

22.2 (16.0)

 Median (range)

9.1 (3.9–58.7)

33.2 (3.8–50.7)

15.9 (4.1–37.9)

17.8 (3.8–58.7)

Age group, n (%)

 ≤ 2 years

0

0

0

0

 > 2 to 10 years

5

3

2

10 (33.3)

 > 10 to 18 years

1

0

4

5 (16.7)

 > 18 years

3

7

5

15 (50.0)

Sex. n (%)

 Male

7

3

5

15 (50.0)

 Female

2

7

6

15 (50.0)

Race, n (%)

 White

9

7

10

26 (86.7)

 Asian

0

2

0

2 (6.7)

 Other

0

1

1

2 (6.7)

BMI category (patients < 18 years), n (%)

 Underweight (< 5th percentile)

1

3

3

7 (46.7)

 Healthy weight (5th to 75th percentile)

5

0

3

8 (53)

 Overweight (> 75th percentile)

0

0

0

0

BMI category (patients ≥ 18 years), n (%)

 Underweight (16 to < 18.5 kg/m²)

0

3

4

7 (46.7)

 Healthy weight (18.5 to < 25.0 kg/m²)

2

4

1

7 (46.7)

 Overweight (≥ 25 kg/m²)

1

0

0

1 (6.7)

Primary DEB diagnosis and subtype, n (%)

 Recessive DEB

8

10

11

29 (96.7)

  Generalized severe

0

0

9

9 (30.0)

  Generalized intermediate

6

9

2

17 (56.7)

  Inversa

2

1

0

3 (10.0)

 Dominant DEB

1

0

0

1 (3.3)

  Other subtype

1

0

0

1 (3.3)

Medical history, n (%)

 Dysphagia

5

7

11

23 (76.7)

 Esophageal stenosis

3

7

10

20 (66.7)

 Microstomia

3

3

7

13 (43.3)

 Squamous cell carcinoma^a

0

2

1

3 (10.0)

Surgical/procedural history, n (%)

 Esophageal dilation

0

4

5

9 (30.0)

 Hand repair operation

0

3

3

6 (20.0)

 Gastrostomy

0

2

2

4 (13.3)

 Finger repair operation

0

1

2

3 (10.0)

 Gastrointestinal tube insertion

0

0

3

3 (10.0)