Blue Rubber Bleb Nevus Syndrome: Case Report and Literature Review
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Daniela Dobru1, Nicolae Seuchea1, Marian Dorin2, Valentin Careianu3

1) Gastroenterology Department. 2) 2 nd Surgery Clinic, University of Medicine and Pharmacy. 3) Imaging Department, Emergency Hospital, Târgu Mures

Abstract

Blue Rubber Bleb Nevus Syndrome ( BRBNS) is a rare disorder characterized by multiple cutaneous venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may also be involved.

BRBNS has a potential for serious or fatal bleeding. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. Although it was first recognized by Gascoyen in 1860, only one hundred years later did Bean further describe these lesions and coined the term BRBNS. A MEDLINE search yielded about 200 case reports published till 2003.

We present a case of this syndrome diagnosed in a 16- year – old patient with both upper and lower gastrointestinal bleeding. He had severe anemia and venous swellings on the trunk. Similar lesions were found in the stomach, bowel and on his foot. In addition, we review the available literature on the epidemiology, clinical features, associated conditions, diagnosis and treatment.

Key words

Blue rubber bleb nevus syndrome - hemorrhage - anemia- vascular malformation - endoscopic therapy