Abstract

Blue Rubber Bleb Nevus syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause episodes of occult gastrointestinal haemorrhage and iron deficiency anaemia. We describe an 8-year-old girl who had multiple cutaneous venous malformations since birth. She also suffered from several episodes of severe chronic iron deficiency anaemia and required blood transfusions. To evaluate the presence of gastrointestinal bleeding secondary to intestinal angiomatosis, we decided to perform 99mTc-labelled red blood cell scintigraphy, which confirmed cutaneous venous malformations and also showed gastrointestinal vascular lesions that suggested the diagnosis of Blue Rubber Bleb Nevus Syndrome.

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