Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs – usually the gastrointestinal tract.

[1] The disease is characterized by the presence of fluid-filled blisters (blebs) as visible, circumscribed, chronic lesions (nevi).

A patient who is diagnosed with BRBNS likely has a family history of other multifocal venous malformations[8] which are a symptom of the disease.

[8] Endoscopy also allows immediate therapeutic measures like argon plasma, coagulation, laser photocoagulation, sclerotherapy, or band ligation.

[8] It is not necessary to remove the lesions in the gastrointestinal system unless the bleeding leads to anemia and repeated blood transfusions.

[11] Blue Rubber Bleb Nevus Syndrome affects males and females in equal numbers.

[8] According to a review of literature, 20% of patients with BRBNS were from the United States, 15% from Japan, 9% from Spain, 9% from Germany, 6% from China, and 6% from France; and a lower number of cases from other countries.

Cutaneous manifestation of blue rubber bleb nevus syndrome
Visceral venous malformations seen in blue rubber bleb nevus syndrome. Lesions chiefly affect the gut (image above), are fragile, and bleed easily.