Table 2.
Cumulative risk of symptoms over time in patients with RDEB
| 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 | ||
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
aData not available in inversa subtype
bData not available in severe or inversa subtype
c35 years
d65 years
e25 years
f34 years
g52 years