Yingmin Lin,1 Wei Kong,2 Shuying Li,2 Min Wang3,4 

1Department of General Practice, Qilu Hospital of Shandong University, Jinan, Shandong Province, 250012, People’s Republic of China; 2Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province, 250012, People’s Republic of China; 3Department of Geriatric, Gastroenterology, Qilu Hospital of Shandong University, Jinan, Shandong Province, 250012, People’s Republic of China; 4Shandong Key Laboratory of Cardiovascular Proteomics, Jinan, Shandong Province, 250012, People’s Republic of China

Correspondence: Min Wang, Department of Geriatric, Gastroenterology, Qilu Hospital of Shandong University, Jinan, Shandong Province, People’s Republic of China, Email doctorminmin@163.com

Abstract: Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that are hereditary and heterogeneous, characterized by skin and mucosal fragility and blister formation, often induced by minimal trauma. Esophageal complications represent a significant extracutaneous manifestation of EB. The lack of standardized diagnostic and therapeutic guidelines of EB with esophageal complications contributes to inconsistent management and a higher susceptibility to recurrence. For patients with EB experiencing digestive tract symptoms, there are few reports that specifically address the follow-up and continuity of mucosal repair treatment. To date, EB with esophageal complications and co-infection with Helicobacter pylori (H. pylori) has been rarely reported. The impact of H. pylori infection on EB remains unclear. Here, we report a case of a 26-year-old man diagnosed with EB and esophageal complications. The patient presented with post-sternal pain, dysphagia, esophageal obstruction, and vomiting. Gastroscopy revealed scattered flake erosions on the esophageal mucosa. The pathological examination revealed inflammatory granulation tissue with necrosis and focal squamous epithelium showing mild atypical hyperplasia. Significant improvement in symptoms was observed after long-term mucosal repair therapy. After being lost to follow-up, the patient developed symptomatic exacerbation and co-infection with H. pylori. The patient’s condition improved after the eradication of H. pylori, combined with ongoing treatment for esophageal complications and regular follow-up. Patients with EB who have esophageal complications require long-term mucosal repair treatment and regular follow-up. Co-infection with H. pylori may be an important factor in disease recurrence.

Keywords: epidermolysis bullosa, esophageal complications, Barrett’s esophagus, Helicobacter pylori, case report