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

Tang, Jean Yuh; Marinkovich, M. Peter; Lucas, Eleanor; Gorell, Emily; Chiou, Albert; Lu, Ying; Gillon, Jodie; Patel, Dipen; Rudin, Dan

doi:10.1186/s13023-021-01811-7

Orphanet Journal of Rare Diseases

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	35/35^a	Multicenter, Spain [48]
	92	33/35^b	Multicenter, Spain [48]
	89	8/9^c	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	10/17^d	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]
Malnutrition/nutritional problems	50	12/24	Single-center, France [20]
Failure to thrive	39	22/57	Single-center, UK [31]
Failure to thrive	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]
Pseudosyndactyly of hand	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	5/8^c	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	5/8^c	Registry analysis, UK [33]
Symblepharon	59	8/16	NR, Chile [42]
Ectropion	38	6/16	NR, Chile [42]
Ectropion	13	1/8^c	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]
Nail dystrophy and loss	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	54/225^e	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]

DEB, dystrophic epidermolysis bullosa; NR, not reported; NZ, New Zealand; RDEB, recessive dystrophic epidermolysis bullosa; UK, United Kingdom; US, United States
^aFibrotic lesion
^bBlister lesion
^cPopulation was patients with severe RDEB
^dPopulation was children with DEB (88% RDEB)
^eOf 225 permanent teeth in patients with RDEB

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ISSN: 1750-1172

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