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 results from developmental differentiation disorders during the embryonic stage and is an autosomal dominant genetic disease.

bubble_chart Pathological Changes

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

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 rubber-like nipples covered by a thin layer of skin.
3. Irregular blue patches, sometimes punctate, invade surrounding normal skin, resulting in various pigmentary changes ranging from blue-black, blue, and light blue to normal skin color.

bubble_chart Clinical Manifestations

Clinically, patients often experience hematemesis, hematochezia, and rectal bleeding, leading to anemia. The skin veins are dilated, appearing as hernia-like protrusions, presenting as purplish-red or blue masses with a soft texture. Small lesions may fade upon compression and are accompanied by localized pain or tenderness, with profuse sweating observed over the mass.

bubble_chart Diagnosis

Any patient with special skin manifestations such as blue spots and gastrointestinal bleeding should be considered for this disease.

bubble_chart Treatment Measures

Surgical or endoscopic laser and microwave treatments are used for gastrointestinal bleeding; larger skin blister nevus lesions can be surgically removed.

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.