Blue rubber bleb nevus syndrome complicated by a ventricular septal defect: a case report / 南方医科大学学报

The co-occurrence of blue rubber bleb nevus syndrome (BRBNS) and ventricular septal defects is rare. Here we present a case of BRBNS in a 15-year-old boy who was born with multiple cavernous hemangiomas and a ventricular septal defect. Examinations revealed the presence of hemangioma lesions in the subcutaneous and mucosal tissues as well as in the cerebrum, nasopharynx, tongue, esophagus, gastric body, sigmoid colon and adrenal gland. Combined imaging modalities played an important role in the diagnosis of hemangioma lesions.