The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa

Guerra-Leal, Jesús Dante; Meester, Irene; Cantu-Gonzalez, Juan Ramon; Ornelas-Cortinas, Gerardo E.; Montemayor‐Martinez, Alberto; Salas‐Alanís, Julio C.

doi:10.2214/ajr.16.16115

Cited by 7 publications

(6 citation statements)

References 13 publications

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“…In six studies, the proportion of patients with esophageal strictures ranged from 51 to 86% [30,31,[52][53][54][55]. A Mexican analysis of 14 patients reported a median of one stenosis per year, with 74% (14/19 stenoses) in the proximal region [32]. A single-center UK study of 57 patients with stenoses reported a median of two stricture sites at esophageal dilation, the majority of which were located in the cervical or thoracic region (percentage not given) [41].…”

Section: Strictures and Stenosesmentioning

confidence: 99%

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

Tang¹,

Marinkovich²,

Lucas³

et al. 2021

Orphanet J Rare Dis

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Background/objective Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies. The objective of this manuscript is to provide a comprehensive literature review of the disease burden caused by RDEB. Methods A systematic literature review was conducted in MEDLINE and Embase in accordance with PRISMA guidelines. Observational and interventional studies on the economic, clinical, or humanistic burden of RDEB were included. Results Sixty-five studies were included in the review. Patients had considerable wound burden, with 60% reporting wounds covering more than 30% of their body. Increases in pain and itch were seen with larger wound size. Chronic wounds were larger and more painful than recurrent wounds. Commonly reported symptoms and complications included lesions and blistering, anemia, nail dystrophy and loss, milia, infections, musculoskeletal contractures, strictures or stenoses, constipation, malnutrition/nutritional problems, pseudosyndactyly, ocular manifestations, and dental caries. Many patients underwent esophageal dilation (29–74%; median dilations, 2–6) and gastrostomy tube placement (8–58%). In the severely affected population, risk of squamous cell carcinoma (SCC) was 76% and mortality from SCC reached 84% by age 40. Patients with RDEB experienced worsened quality of life (QOL), decreased functioning and social activities, and increased pain and itch when compared to other EB subtypes, other skin diseases, and the general population. Families of patients reported experiencing high rates of burden including financial burden (50–54%) and negative impact on private life (79%). Direct medical costs were high, though reported in few studies; annual payer-borne total medical costs in Ireland were $84,534 and annual patient-borne medical costs in Korea were $7392. Estimated annual US costs for wound dressings ranged from $4000 to $245,000. Patients spent considerable time changing dressings: often daily (13–54% of patients) with up to three hours per change (15–40%). Conclusion Patients with RDEB and their families/caregivers experience significant economic, humanistic, and clinical burden. Further research is needed to better understand the costs of disease, how the burden of disease changes over the patient lifetime and to better characterize QOL impact, and how RDEB compares with other chronic, debilitating disorders.

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Section: Strictures and Stenosesmentioning

confidence: 99%

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

Tang¹,

Marinkovich²,

Lucas³

et al. 2021

Orphanet J Rare Dis

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“…Patients frequently complain of dysphagia. On esophagography, strictures of variable length involving the upper third of the esophagus are seen, with smooth tapered margins [ 10 ].…”

Section: Normal Esophagus On Fluoroscopymentioning

confidence: 99%

Dots, lines, contours, and ends: An image-based review of esophageal pathology

Keshav

Khalid

Parasher

et al. 2021

European Journal of Radiology Open

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Highlights Learning Point #1 : Small ulcers on esophagography are usually attributable to herpes esophagitis and drug-induced esophagitis. Although rare, Crohn’s disease may produce small apthoid ulcers. Large ulcers are usually attributable to CMV or HIV esophagitis. Learning Point #2 : The early findings of candida are plaques that mimic glycogenic acanthosis. When plaques are seen, consider early candida or glycogenic acanthosis. When shaggy esophagus is identified, consider candidiasis. Learning Point #3 : Varices and varicoid esophageal carcinoma may appear similar on imaging. The presence of obstruction and lack of change with time and position should sway the Radiologist to diagnosing varicoid esophageal carcinoma. Learning Point #4 : Transverse esophageal lines should suggest the entities of feline esophagus and idiopathic eosinophilic esophagitis. Learning Point #5 : Esophageal contour abnormalities may suggest extrinsic or intrinsic lesions. Extrinsic lesions include aberrant vessels. Intrinsic lesions include intramural pseudodiverticulosis, gastroesophageal reflux, Barrett’s esophagus, and esophageal cancer.

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“…Patients with autosomal dominant or au tosomal recessive "other generalized type" dystrophic EB typically present with localized blistering of the extremities-hands, feet, knees, and elbows-whereas patients with autosomal recessive "severe generalized" dystrophic EB ex perience severe widespread blistering beginning in the early neonatal period (Fig 11) (21). The upper gastrointestinal tract is a frequent site of extracutaneous involvement, and common gastrointestinal manifestations include oropha ryngeal blistering, tongue adhesions or fusion, and esophageal strictures and webs, which can result in severe dysphagia.…”

Section: Epidermolysis Bullosamentioning

confidence: 99%

“…The upper gastrointestinal tract is a frequent site of extracutaneous involvement, and common gastrointestinal manifestations include oropha ryngeal blistering, tongue adhesions or fusion, and esophageal strictures and webs, which can result in severe dysphagia. Although dysphagia occurs in up to 76% of patients with dystrophic EB (22), esophageal strictures are observed even in asymptomatic patients (21).…”

Section: Epidermolysis Bullosamentioning

confidence: 99%

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Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous Manifestations

et al. 2019

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The Importance of Esophagography in Patients With Recessive Dystrophic Epidermolysis Bullosa

Abstract: Esophageal stenosis is a common complication in patients with RDEB, even when they do not have dysphagia. We recommend regular esophagographic examinations of all patients with RDEB.

Cited by 7 publications

References 13 publications

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

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

Dots, lines, contours, and ends: An image-based review of esophageal pathology

Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous Manifestations

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