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Table 2 Cumulative risk of symptoms over time in patients with RDEB

From: A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Symptom, study

Country, registry (date of data collection)

RDEB population (N)

Overall incidence (%)

Cumulative risk (%) at

1 year

10 years

15 years

20 years

40 years

60 years

General symptoms

Esophageal stenoses and strictures

US, NEBR (1986–2002)

Severe (134)

79

7

57

72

79

89

95

Fine [30]

Intermediate (261)

37

4

27

34

40

62

70

Inversa (15)

87

0

33

56

56

89

NR

Laryngeal stenoses and strictures

US, NEBR (1986–2002)

Severe (138)

2

0

1

1

1

5

5

Fine [29]

Intermediate (263)

0

0

0

0

0

0

0

Inversa (17)

0

0

0

0

0

0

0

Pseudosyndactyly of the hands

US, NEBR (1986–2002)

Severe (142)

95

16

92

93

98

98

98

Fine [28]

Intermediate (266)

51

13

43

49

50

55

55

Inversa (17)

41

0

8

26

26

26

26

Musculoskeletal contractures

US, NEBR (1986–2002)

Severe (142)

NR

13

83

92

99

NR

NR

Fine [28]

Intermediate (266)

NR

4

37

46

46

49

78

Inversa (17)

NR

0

8

25

25

43

NR

CHF or cardiomyopathy

US, NEBRa (1986–2002)

Severe (140)

7

1

2

4

7

19

19

Fine [25]

Intermediate (267)

1

0

0

0

1

3

3

Growth retardation

US, NEBR (1986–2002)

Severe (141)

NR

14

67

75

80

80

NR

Fine [30]

Intermediate (266)

NR

3

10

12

13

13

13

Inversa (17)

NR

6

20

20

20

20

NR

Premature mortality

Death from sepsis

US, NEBRb (1986–2002)

Intermediate (262)

NR

0.4

0.4

0.4

NR

NR

NR

Fine [63]

Death from pneumonia

US, NEBR (1986–2002)

Severe (138)

NR

0

0

1.8

NR

NR

NR

Fine [63]

Intermediate (262)

NR

0.4

0.4

1.1

NR

NR

NR

Inversa (17)

0

0

0

0

NR

NR

NR

Death from respiratory failure

US, NEBRa (1986–2002)

Severe (138)

NR

0

0

0.4

NR

NR

NR

Fine [63]

Intermediate (262)

NR

NR

NR

1.1

NR

NR

NR

Death from renal failure

US, NEBR (1986–2002)

All RDEB (417)

NR

0

0

0

NR

NR

NR

Fine [63]

Death from failure to thrive

US, NEBR (1986–2002)

All RDEB (417)

NR

0

0

0

NR

NR

NR

Fine [63]

Death from SCC

US, NEBR (1986–2002)

All RDEB (417)

NR

0

0

0

NR

NR

NR

Fine [63]

SCC-related

Development of SCC

UK, NEBR (2000–2015)

Children (79)

0

NR

NR

NR

NR

NR

NR

Alband [17]

Development of SCC

US, Survey (2017)

Children (caregiver-reported) (34)

0

NR

NR

NR

NR

NR

NR

Bruckner [53]

Adults (19)

16

NR

NR

NR

NR

NR

NR

Development of SCC

Australia, AEBRa (2009–2016)

Severe (11)

NR

NR

NR

NR

26

76c

NR

Kim [6]

Intermediate (5)

NR

NR

NR

NR

NR

10c

67d

Development of SCC

US, NEBR (1986–2002)

Severe (141)

23

0

0

0

8

74

NR

Fine [26]

Intermediate (263)

9

0

0

1

4

24

36

Inversa (17)

18

0

0

0

0

8

NR

SCC-related death

Australia, AEBRa (2009–2016)

Severe (11)

NR

NR

NR

NR

30e

84f

NR

Kim [6]

Intermediate (5)

NR

NR

NR

NR

NR

17c

67 g

SCC-related death (all patients with RDEB)

US, NEBR (1986–2002)

Severe (141)

NR

0

0

0

1

59

NR

Intermediate (263)

NR

0

0

0

0

8

22

Fine [26]

Inversa (17)

NR

0

0

0

0

0

NR

SCC-related death (history of SCC)

US, NEBR (1986–2002)

Severe (32)

NR

0

0

0

13

81

NR

Fine [26]

Intermediate (24)

NR

0

0

4

4

31

60

Inversa (3)

NR

0

0

0

0

0

NR

  1. AEBR, Australasian Epidermolysis Bullosa Registry; CHF, congestive heart failure; NEBR, National Epidermolysis Bullosa Registry; NR, not reported; RDEB, recessive dystrophic epidermolysis bullosa; SCC, squamous cell carcinoma; US, United States
  2. aData not available in inversa subtype
  3. bData not available in severe or inversa subtype
  4. c35 years
  5. d65 years
  6. e25 years
  7. f34 years
  8. g52 years