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Table 1 Incidence of symptoms in patients with RDEB

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

Symptom % n/N Design, country
Blisters/lesions
Blisters at or within 1 week of birth 94 15/16 Registry analysis, Australia/NZ [35]
86 12/14 Registry analysis, UK [33]
70 7/10 Single-center, Saudi Arabia [16]
Oral lesions
Any oral lesions 100 35/35a Multicenter, Spain [48]
92 33/35b Multicenter, Spain [48]
89 8/9c Registry analysis, UK [33]
79 22/28 Single-center, Japan [43]
Lingual lesions 77 27/35 Multicenter, Spain [48]
Dental lesions 61 17/28 Single-center, Japan [43]
Soft palate lesions 60 21/35 Multicenter, Spain [48]
Oral bullae 59 10/17d Case-review, Serbia [21]
Lesions on lips, mouth, tongue or ear 53 32/60 Single-center, Brazil [22]
Hard palate lesions 53 18/35 Multicenter, Spain [48]
Labial lesions 46 16/35 Multicenter, Spain [48]
Palatal milium cysts 46 16/35 Multicenter, Spain [48]
Jugal mucosa 34 12/35 Multicenter, Spain [48]
Other lesions
Nail lesions 75 21/28 Single-center, Japan [43]
Lip lesions 53 32/60 Single-center, Brazil [22]
Esophageal lesions 47 28/60 Single-center, Brazil [22]
Nostril lesions 18 11/60 Single-center, Brazil [22]
Eyelid blisters 7 5/72 Single-center, UK [51]
External ear canal lesions 3 2/60 Single-center, Brazil [22]
Larynx lesions 2 1/60 Single-center, Brazil [22]
Strictures/stenoses
Esophageal strictures/stenosis 86 6/7 Single-center, US [52]
81 43/53 Survey, US [53]
65 37/57 Single-center, UK [31]
64 100/157 Single-center, Germany [55]
64 53/83 Survey, International [54]
51 216/424 Registry analysis, US [30]
Other strictures/stenoses
Anal strictures 15 62/422 Registry analysis, US [30]
Pulmonary artery stenosis 14 1/7 Single-center, US [52]
Nostril stenoses 5 3/60 Single-center, Brazil [22]
Urethral meatal stenoses 3 14/425 Registry analysis, US [27]
Anterior commissure stenoses 2 1/60 Single-center, Brazil [22]
Pyloric stenoses or atresia 1 5/419 Registry analysis, US [30]
Laryngeal stenoses 0.7 3/412 Registry analysis, US [29]
Rectal strictures 0.2 1/422 Registry analysis, US [30]
Malnutrition/failure to thrive
Malnutrition/nutritional problems 72 38/53 Survey, US [53]
50 12/24 Single-center, France [20]
Failure to thrive 39 22/57 Single-center, UK [31]
25 21/83 Survey, International [54]
Growth problems diagnosed by physician 34 18/53 Survey, US [53]
Negative height standard deviation scores 94 17/18 Single-center, UK [44]
Negative height velocity standard deviation scores 89 16/18 Single-center, UK [44]
Nutritional deficiencies
Selenium deficiency 94 NR Single-center, Germany [55]
Vitamin D deficiency 67 NR Single-center, Germany [55]
Low albumin levels 56 NR Single-center, Germany [55]
Zinc deficiency 55 NR Single-center, Germany [55]
Anemia
Any anemia 100 10/10 Single-center, Saudi Arabia [16]
91 143/157 Single-center, Germany [55]
76 40/53 Survey, US [53]
68 17/25 Registry, Australia [34]
60 47/79 Registry, UK [17]
52 43/83 Survey, International [54]
50 3/6 Single-center, US [52]
Pseudosyndactyly
Any pseudosyndactyly 71 5/7 Single-center, Japan [43]
50 14/28 Single-center, US [52]
22 2/9 Single-center, Saudi Arabia [16]
Pseudosyndactyly of foot 55 46/83 Survey, International [54]
Pseudosyndactyly of hand 65 NR/425 Registry, US [28]
13 11/83 Survey, International [54]
Ocular symptoms
Any ocular symptoms 68 36/53 Survey, US [53]
52 16/31 NR, Chile [42]
52 43/83 Survey, International [54]
51 37/72 Single-center, UK [51]
Corneal complications in those with ocular symptoms 100 16/16 NR, Chile [42]
68 25/37 Single-center, UK [51]
63 5/8c Registry analysis, UK [33]
Other ocular symptoms in those experiencing ocular involvement
Anterior blepharitis and collarettes 94 15/16 NR, Chile [42]
Corneal erosions 63 5/8c Registry analysis, UK [33]
Symblepharon 59 8/16 NR, Chile [42]
Ectropion 38 6/16 NR, Chile [42]
13 1/8c Registry analysis, UK [33]
Conjunctival complications 14 5/37 Single-center, UK [51]
Exposure keratitis associated with upper and lower eyelid extropian’s 8 3/37 Single-center, UK [51]
Other commonly reported symptoms
Nail dystrophy and loss 100 10/10 Single-center, Saudi Arabia [16]
100 12/12 Registry analysis, UK [33]
Milia 100 9/9 Single-center, Saudi Arabia [16]
93 49/53 Survey, US [53]
21 6/28 Single-center, Japan [43]
Constipation 75 9/12 Registry, UK [33]
72 38/53 Survey, US [53]
60 254/422 Registry analysis, US [30]
40 23/57 Single-center, UK [31]
Musculoskeletal contractures 87 46/53 Survey, US [53]
67 4/6 Single-center, US [52]
30 3/10 Single-center, Saudi Arabia [16]
Dental caries 24 54/225e Case-review, Serbia [21]
Infections
Any infection 64 53/83 Survey, International [54]
Skin infection 90 9/10 Single-center, Saudi Arabia [16]
Recurrent respiratory infection 50 5/10 Single-center, Saudi Arabia [16]
Bacterial septicemia 20 2/10 Single-center, Saudi Arabia [16]
Candida septicemia 10 1/10 Single-center, Saudi Arabia [16]
  1. DEB, dystrophic epidermolysis bullosa; NR, not reported; NZ, New Zealand; RDEB, recessive dystrophic epidermolysis bullosa; UK, United Kingdom; US, United States
  2. aFibrotic lesion
  3. bBlister lesion
  4. cPopulation was patients with severe RDEB
  5. dPopulation was children with DEB (88% RDEB)
  6. eOf 225 permanent teeth in patients with RDEB