Blue rubber bleb nevus syndrome

background

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterized by the malformation of the cutaneous (skin) and gastrointestinal (stomach and intestines) veins. Veins are blood vessels that carry blood back to the heart.
Symptoms of BRBNS usually appear at birth or in early childhood. Patients with BRBNS have from several to hundreds of lesions called hemangiomas, which are abnormal masses of blood vessels. Hemangiomas on the skin are usually 1-2 centimeters in size and blue or purple in color. These lesions may be painful or tender when touched, and they may be flat or elevated. Patients may also develop hemangiomas on internal organs, most commonly in the gastrointestinal tract.
Gastrointestinal hemangiomas may lead to chronic internal bleeding throughout the life of a patient, and in rare cases to a sudden internal hemorrhage (loss of blood from the circulatory system). Patients with BRBNS are often anemic, meaning they have reduced numbers of red blood cells.
The cause of BRBNS is not clear. Some evidence suggests that it may be due to the inheritance of a defective gene, but in many cases the disease appears to occur randomly. Only about 150 cases of BRBNS have been reported throughout the world, and the disease appears to affect males and females equally.
There is currently no cure for BRBNS. Most patients are able to live normal lives and have a normal life span if treated properly. Treatment includes lifelong iron replacement and repeated blood transfusions.

Related Terms

Bean syndrome, blood vessels, blue rubber-bleb nevus, blue rubber bleb syndrome, BRBNS, gastrointestinal tract, hemangioma, hemorrhage, lesion, veins.