Gastrointestinal Aspects of Epidermolysis Bullosa

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

“…The majority of strictures occurs in the upper third of the esophagus, but may arise anywhere else along its length. 53-55 It [41][42][43][44][45]51,[53][54][55]64,67,68,158,159 Esophageal web 54,56,57 Spontaneous esophageal perforation 72,73 Vomiting of an esophageal cast 42,50 Gastroesophageal reflux disease 43-45,47,z Abnormal esophageal motility 43,71 Hiatus hernia 44 Gastritis/peptic ulcer disease 44 Pyloric atresia or stenosis 86 has been suggested that upper esophageal strictures might arise from blistering related to the ingestion of food, causing direct damage to the esophageal mucosa, whereas lower strictures may be precipitated or exacerbated by GERD. Strictures in EB may be solitary or, in approximately 10% to 40% of patients, multiple, and can be demonstrated radiologically with contrast studies.…”

“…44 A study of 223 pediatric EB patients revealed a frequency of 64.9% for esophageal strictures in RDEB patients, 45 corroborating similar frequencies in other series. [41][42][43] Esophageal strictures in RDEB-HS patients frequently present in childhood, with more than half reporting symptoms by 10 years of age. This frequency increases with age, with a cumulative risk of almost 95% by 45 years of age (Fig 6).…”

“…Specific complications may be seen in different sites within the gut, including esophageal blistering, strictures, and web formation (almost exclusively in DEB), gastroesophageal reflux disease (GERD), and constipation. [41][42][43][44][45] The main GI complications of EB are summarized in Table IV.…”

“…Reported gastrointestinal complications in inherited epidermolysis bullosa *yPoor swallow coordination46,47 Dysphagia[41][42][43][44][45]51,[53][54][55]64,67,68,158,159 Esophageal stenosis…”

Dystrophic Epidermolysis Bullosa

“…Topical analgesics are ineffective for control of pain when applied to skin lesions but are helpful in the management of painful anal fissures and erosions. 36 Stool softeners and psyllium-containing fiber preparations are useful for management of chronic constipation. 36 Oral prophylaxis with sucralfate prevents blister formation and provides comfort for mouth lesions.…”