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

Abstract

A high index of suspicion for BRBNS and adequate endoscopy examination will help to identify the origin of refractory IDA in older children, particularly in patients with vascular lesions of the skin.

Blue rubber bleb nevus syndrome with the complication of intussusception

“…[ 3 ] Cutaneous lesions may occur mostly in infants and adolescents in the early stage, and are common in the upper limbs and especially the trunk as reported in the literature. [ 4 , 17 , 18 ] Notably, cutaneous lesions associated with BRBNS are generally asymptomatic, although the number of lesions on the skin surface varies from several to more than 100. [ 4 , 19 ] GI lesions can affect the mucosa from the oral cavity to the anus, but are more common in the small intestine and are prone to bleeding, usually leading to chronic IDA.…”

“…[ 4 , 17 , 18 ] Notably, cutaneous lesions associated with BRBNS are generally asymptomatic, although the number of lesions on the skin surface varies from several to more than 100. [ 4 , 19 ] GI lesions can affect the mucosa from the oral cavity to the anus, but are more common in the small intestine and are prone to bleeding, usually leading to chronic IDA. [ 2 , 20 ] In the present case, the patient had representative clinical features of the syndrome, such as skin lesions, GI bleeding, and severe IDA.…”

“…Blue rubber bleb nevus syndrome (BRBNS) is an extremely unusual disorder characterized by multifocal venous malformations involving various organs, with the affected organs mainly including the skin, gastrointestinal (GI) tract, and other visceral organs. [ 1 – 4 ] The morbidity of BRBNS is very low and has been reported in more than 200 cases in an up-to-date MEDLINE search. [ 5 ] The most frequent clinical manifestations of this syndrome are GI bleeding and secondary iron-deficiency anemia (IDA).…”

Blue rubber bleb nevus: a rare cause of GI bleeding—review of management

“…Sometimes, they can become large enough acting as a lead point for intussusception, volvulus and, subsequently, infarction. In a patient of BRBNS presenting with an acute abdomen, the possibility of one of these malformations bleeding into bowel wall must be ruled out 9 14. Evaluation of GI lesions is made by upper and lower endoscopy, barium swallow, nuclear imaging, CT and MRI.…”

“…Evaluation of GI lesions is made by upper and lower endoscopy, barium swallow, nuclear imaging, CT and MRI. Comprehensive gastroscopy and colonoscopy should be done and in the case of negative findings, should prompt the management with capsule endoscopy, which is non-invasive and well-tolerated technique, that can provide complete picture of the intestine, including small intestine 14 15. Labelled RBC scan can be the best non-invasive method of diagnosing the lesions when there is GI bleeding and no findings on endoscopies.…”