BLUE RUBBER BLEB NEVUS SYNDROME- A RARE CASE
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Munib, N. ., Ahmed, R. ., & Haider, I. . (2023). BLUE RUBBER BLEB NEVUS SYNDROME- A RARE CASE . PAKISTAN MEDICAL STUDENTS RESEARCH JOURNAL, 1(1), 35–37. Retrieved from http://pmsrj.com/index.php/pmsrj/article/view/27

Abstract

Blue Rubber Bleb Nevus Syndrome (BBRNS) is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that result in gastrointestinal hemorrhage and iron deficiency anemia secondary to bleeding episodes. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases but dominant autosomal inheritance has been also described specifically with a locus found on chromosome 9p. Approximately 250 cases have been reported in the literature to date. The syndrome affects both males and females with equal frequency. Blue rubber bleb nevus syndrome (BRBNS or Bean’s syndrome) was first recognized by Gascoyen in 1860. 1 Hundred years later Bean described BRBNS in detail and coined the term Blue rubber bleb nevus syndrome. 2 The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and the severity of the disease. 

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