When lesion-directed therapy is not enough: blue rubber bleb nevus syndrome in a young adult—a case report

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic venous malformation disorder that primarily affects the skin and gastrointestinal tract. We report a 20-year-old Chinese man of Han ethnicity with multifocal cutaneous and soft-tissue venous malformations and recurrent gastrointestinal bleeding since early childhood. Despite repeated endoscopic and surgical interventions, he developed recurrent melena, hematochezia, and severe anemia requiring transfusion. During the current hospitalization, he received packed red-cell transfusion and oral iron supplementation and underwent lauromacrogol sclerotherapy of multiple symptomatic soft-tissue venous malformations. His hemoglobin level increased from 55 to 98 g/L at discharge, and no recurrent gastrointestinal bleeding occurred during 2 months of follow-up. This case illustrates the limitations of repeated lesion-directed therapy in multifocal BRBNS and emphasizes the importance of multidisciplinary management and longitudinal surveillance. Although early clinical and hematologic improvement was observed, longer follow-up is required to determine whether durable disease control has been achieved.