Blue Rubber Bleb Nevus Syndrome

Abstract

AbstractBlue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations mainly of the skin, soft tissue, and gastrointestinal tract. However, it may occur in any tissue including the nervous system. This syndrome most commonly occurs sporadically but can be associated with an autosomal dominant inheritance. Among the cases reported in the literature, the female/male ratio was ∼1:1. The diagnosis of BRBNS is based on the presence of characteristic cutaneous lesions with or without gastrointestinal bleeding and/or the involvement of other organs. Typical skin manifestations consist of soft, easily compressive, bluish papules similar to rubber-like nipples. Aside the skin, vascular lesions are usually found in the gastrointestinal tract, anywhere from the oral to the anal mucosa, but predominantly in the small bowel. Endoscopy provides the opportunity to treat and diagnose the lesions. BRBNS should be differentiated from hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome), Klippel–Trenaunay syndrome, and Maffucci syndrome. The prognosis of BRBNS depends on which organs are involved and the extent of involvement. Most patients can live a long life with the disease, but the quality of life is limited due to gastrointestinal bleeding, oral drug therapy, and blood transfusions. Sudden massive gastrointestinal hemorrhage remains the most frequent cause of death. No curative therapy is currently available for this syndrome. The cutaneous lesions are usually asymptomatic and do not require treatment. The most important clinical problem is the management of acute or chronic bleeding from the multiple gastrointestinal venous malformations: a conservative approach should be instituted whenever the clinical features and the bleeding episodes are mild and only in a life-threatening situation surgery may be required. In the recent years, however, molecular targeted therapy with the mammalian target of rapamycin inhibitor sirolimus has been anecdotally employed with reduction in bleeding and shrinkage of vascular malformations.