Blue Rubber Bleb Nevus Syndrome refers to the presence of cavernous or capillary hemangiomas in both the skin and gastrointestinal tract. It was first described by Bean in 1958, hence also known as Bean syndrome. This syndrome is caused by differentiation and developmental disorders during the embryonic period and is an autosomal dominant genetic disease.

bubble_chart Pathological Changes

Pathological changes in the skin or digestive tract present in three forms:

1. Large cavernous hemangiomas replace normal tissue, affecting vital organs and obstructing tubular structures such as the intestines, trachea, etc.

2. Blood-filled sacs appear as blue rubbery nipples covered by a thin layer of skin.

3. Irregular blue patches, sometimes punctate, invade surrounding normal skin, resulting in various pigment changes ranging from blue-black, blue, and light blue to normal skin color. Histological examination reveals capillary or cavernous hemangiomas, with smooth muscle fibers between the vessel walls and numerous sweat glands near the blood vessels.

bubble_chart Clinical Manifestations

Clinically, patients often experience hematemesis, hematochezia, and rectal bleeding, leading to anemia. The skin veins are dilated, resembling a hernial protrusion, presenting as purplish-red or blue masses with a soft texture. Small lesions may fade under pressure and are accompanied by localized pain or tenderness, with profuse sweating observed above the mass.

bubble_chart Diagnosis

During diagnosis, the presence of distinctive skin manifestations such as blue spots and gastrointestinal bleeding should raise suspicion of this disease.

bubble_chart Treatment Measures

bubble_chart Differentiation

It should be differentiated from other diseases with cutaneous hemangiomas accompanied by gastrointestinal hemangiomas, such as hereditary hemorrhagic telangiectasia (Osler's disease), multiple localized hemangiomas, Klippel-Weber syndrome (port-wine hemangioma), and systemic hemangiomas.