Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a congenital disorder with characteristic venous anomalies that can present with varying degree of blood loss. The most clinically significant symptoms in adults include gastrointestinal (GI) bleeding and iron deficiency anemia. Severe complications can include intestinal torsion, intussusception, and even perforation, with each leading to significant morbidity and mortality. This report serves to give a brief understanding of this rare disease along with current diagnostic and therapeutic options.

A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia

“…[6] Moreover, the presentation of cutaneous lesions may be delayed or occur without typical clinical manifestations, which may lead to a delay in diagnosis. [8] In our case, the patient presented with only 3 lesions of the skin; 2 were resected before presenting to our outpatient department. For this reason, BRBNS was not initially suspected.…”

Perforation following enteroscopic treatment of blue rubber bleb naevus syndrome

“…Diagnosis is based on the presence of characteristic venous lesions, with most cases being diagnosed in adolescence, although the diagnosis is sometimes made in the elderly 3 . The cutaneous lesions are blue, rubbery and compressible, hence the syndrome's name.…”

Blue Rubber Bleb Nevus Syndrome: A Surgical Dilemma

“…First defined in 1860 by Gascoyen, blue rubber bleb nevus syndrome (BRBNS) is a rare congenital anomaly characterized by blood loss. 1 This disorder became more well known in 1958 when William Bennett Bean named the disease bean syndrome. 1 BRBNS is defined as a vascular disorder in which dilated venous tissue develops within a thin layer of endothelial cells.…”

“…1 This disorder became more well known in 1958 when William Bennett Bean named the disease bean syndrome. 1 BRBNS is defined as a vascular disorder in which dilated venous tissue develops within a thin layer of endothelial cells. 1 This rare condition consists of blue nevi that range in size from a few millimeters to several centimeters in diameter.…”

“…1 BRBNS is defined as a vascular disorder in which dilated venous tissue develops within a thin layer of endothelial cells. 1 This rare condition consists of blue nevi that range in size from a few millimeters to several centimeters in diameter. These nevi occur preferentially on the trunk and upper extremities, but have been reported to grow in other regions such as the eyes, parotid glands, pericardium, and GI tract.…”