ArticleMedicine2026
Blue rubber bleb nevus syndrome with concurrent esophageal carcinoma: A case report.
Article in Medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundBlue rubber bleb nevus syndrome (BRBNS) is a hereditary disease characterized by venous malformation on the skin and throughout the gastrointestinal tract, which is usually considered a benign disease without elevated risk of carcinogenesis. Nevertheless, lumen narrowing caused by hemangiomas may result in repeated mucosal damage from mechanical stimuli such as solid food. Therefore, it is important to recognize the potential of malignancy as a result of such chronic inflammation due to partial obstruction. CASE PRESENTATION: A 50-year-old patient presented with progressive dysphagia and fatigue. Physical examination showed bluish-violet and non-blanching blisters measuring 0.5 to 2 cm distributed over the skin. The patient has recurrent positive fecal occult blood tests 8 years ago and a low hemoglobin level 14 years ago. Chest computed tomography revealed obvious lumen wall thickening of the mid- and lower thoracic esophagus, accompanied by multiple nodular calcifications. Esophagogastroduodenoscopy and colonoscopy were performed to find multiple hemangiomas scattered throughout the GI tract, which is consistent with blue rubber bleb nevus syndrome (BRBNS). Additionally, biopsy of an ulcerated lesion in the esophageal lumen confirmed esophageal carcinoma. Subsequent positron emission tomography-computed tomography (PET-CT) and endoscopic ultrasound confirmed no metastasis. An esophagectomy was performed. At the 3-month follow-up, there was no evidence of recurrence.
conclusionCurrently, there are about 200 BRBNS cases reported, and none of these cases developed concurrent esophageal carcinoma. To our knowledge, this is the first case of BRBNS with concurrent esophageal carcinoma. Even though BRBNS is considered a benign disease, lumen narrowing caused by hemangiomas may result in repeated mucosal damage from mechanical irritation such as solid food, and physicians should be aware of the potential of malignancy due to chronic inflammation caused by partial obstruction.
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