A case of blue rubber bleb nevus syndrome with familial onset.
We experienced a case of blue rubber bleb nevus syndrome with familial onset. The patient was a 32-year-old male with a gallstone and many bluish rubber bleb-like hemangiomas on the skin. He suffered from repeated rectal bleeding and underwent a sigmoidectomy at age 17. Gastrointestinal hemangiomas were recognized in the esophagus, stomach, ileum and colon. An angiogram revealed multiple small poolings in the liver, suggesting the presence of hemangiomas. During the cholecystectomy, surgeons noted the presence of hemangiomas on the surface of the liver, serosa of the small intestine and retroperitoneum. Out of 73 blood relatives, 24 also had bluish skin hemangiomas, suggesting them to be inherited by an autosomal dominant trait. More than sixty cases of this syndrome had been reported in the world, eight of which had family histories of skin lesions. However, in only three cases, including our own, was the presence of skin and gastrointestinal hemangiomas recognized. Because the clinical indications for diagnosis of blue rubber bleb nevus syndrome consist of minimal to massive bleeding from the gastrointestinal tract, the possibility that this syndrome is present should be considered when diagnosing a bleeding patient with multiple bluish rubber bleb-like skin lesions, in addition to taking a detailed family history.
D000328:Adult; D004067:Digestive System Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009508:Nevus, Pigmented / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012878:Skin Neoplasms / Q000235:genetics*