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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