Blue rubber bleb nevus syndrome: Presentation of a case and review of the literature

Abstract

Blue Rubber Bleb Nevus Syndrome, is a rare condition characterized by skin lesions caused by vascular malformations most frequently associated with lesions of the gastrointestinal tract, although rare, it can present with lesions in the central nervous system, thyroid, liver, spleen and lungs; common symptoms are: digestive tract bleeding and iron deficiency anemia. The main manifestation are skin lesions that are characterized by being button-like, with a bluish tint, covered by skin, called blue nevus with a rubbery consistency due to its rubber-like consistency. We present a case of Blue Rubber Bleb Nevus Syndrome with involvement in the central nervous and gastrointestinal systems.

Blue Rubber Bleb Nevus syndrome: case report from Syria

“…The syndrome also has bone and connective tissue hypertrophy with varicose veins that may or may not accompany deep venous anomalies. Doppler ultrasound is used to diagnose this syndrome along with MRI [ 1 ].…”

“…The rare BRBNS (Blue Rubber Bleb Nevus syndrome) was first reported by Gascoyen in 1860 [ 1 ]. It is characterized by malformations in the venous system of the skin and visceral organs.…”

“…These malformations could be severe enough to cause bleeding and death. The malformations inhabit the skin in 93% of cases manifesting as button-like bluish papules and the gastrointestinal tract in 76% of cases causing bleeding, iron-deficiency anaemia and further complications such as torsion and intussusception [ 1 ]. Symptoms can vary depending on the organ involved.…”

“…Dark urine will necessitate a urine test as bladder lesions could be the cause. Other radiological diagnostics are obtained depending on the specific manifestation, and for instance, musculoskeletal complaints may indicate the need for a simple X-ray or an MRI, while gastrointestinal incidents may require a CT or an endoscopy [ 1 ].…”

“…Histopathological findings include a vascular network of dilated tortuous blood-filled vessels, lined up with a single layer of endothelial cells, surrounded by a delicate connective tissue [ 1 ].…”