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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

BMC Gastroenterology 1/2018

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

BMC Gastroenterology > Ausgabe 1/2018
Agata Michalak, Halina Cichoż-Lach, Beata Prozorow-Król, Leszek Buk, Monika Dzida
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12876-018-0771-5) contains supplementary material, which is available to authorized users.



Epidermolysis 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 presentation

Here 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.


Management 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.
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