نتایج جستجو برای: blue rubber bleb nevus syndrome
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Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by cutaneous and gastrointestinal (GI) venous malformations. The treatment of BRBNS is primarily supportive and ablative. Ablative therapy involves endoscopic or surgical treatment of GI venous malformations. We describe a 20-year-old woman who had multiple venous malformations all over the GI tract as well as cutaneous le...
A 20-year-old woman was admitted with iron deficiency anemia and history of melena. Upper endoscopy demonstrated normal esophagus, stomach and proximal duodenum. At colonoscopy, two bluish pedunculated angiectatic polypoid lesions (1 to 2 cm in diameter) were noted due to blue rubber bleb nevus syndrome (BRBNS). The small intestine was screened for further lesions with the use of capsule endosc...
Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have oft...
Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing autosomal dominant inheritance of venous malformations. Using this family we confirm linkage of a familial fo...
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