A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review

Abstract

BackgroundEpidermolysis bullosa (EB) constitutes a heterogenous group of rare multisystem genetically transmitted disorders comprising several blistering muco-cutaneous diseases with a monogenic basis and either autosomal dominant or autosomal recessive mode of inheritance. EB manifestation is not only limited to the skin. Systemic signs might involve the nose, ear, eye, genitourinary tract and upper gastrointestinal tract. The presence of particular symptoms is directly determined by a type of altered skin protein. Gastrointestinal manifestation of EB is most commonly reflected by esophageal stenosis due to recurrent esophageal blistering, followed by consequent scarring.Case presentationHere we present a case of a man with dystrophic EB and dysphagia, skin blistering, joints contractures and missing nails. To our knowledge, the presented man is the oldest one diagnosed with EB living in Poland.ConclusionsManagement of an esophageal stricture in such circumstances is based on endoscopic dilatation. However, in most severe cases, placement of a gastrostomy tube is required. Despite great advances in medicine, a targeted therapy in the course of EB has not been established yet.Electronic supplementary materialThe online version of this article (10.1186/s12876-018-0771-5) contains supplementary material, which is available to authorized users.

Use of tunnel endoscopy for diagnosis of obscure submucosal esophageal adenocarcinoma: A case report and review of the literature with emphasis on causes of esophageal stenosis

“…Meanwhile, dysphagia is the most common symptom which urges patients to seek medical treatment. Benign esophageal strictures can occur following peptic strictures[8], eosinophilic esophagitis[9], achalasia[10], pill-injury esophageal strictures[11], caustic strictures[12], anastomotic strictures[13], Crohn's disease-associated esophageal stricture[14], IgG4-related esophagitis[15], radiation-induced esophageal strictures[16], esophageal intramural pseudodiverticulosis[17], or epidermolysis bullosa[18] (Table 1). It is generally known that a malignant esophageal stricture refers to esophageal cancer.…”

“…It is generally known that a malignant esophageal stricture refers to esophageal cancer. Some esophageal strictures can be treated by drug therapy such as with proton pump inhibitors or steroids[9,11,15,17], while others can be refractory to most optical endoscopic therapies such as dilation[15,16,18], stent placement[13], or peroral endoscopic myotomy.…”