Blue rubber bleb nevus syndrome: A case report and review of literature

Abstract

Blue rubber bleb nevus syndrome is a rare condition with multiple venous malformations of the skin, gastrointestinal tract, and other visceral sites. It typically appears during childhood, but occasionally may be present at birth. An 8-day-old female child presented with multiple bluish bleb like nodules on skin all over the body including involvement of oral cavity, nail bed since birth. Examination revealed multiple soft, compressible, tender bluish nodules, hepatosplenomegaly, and pansystolic murmur. Magnetic resonance imaging of the brain was suggestive of brain involvement. Ultrasound abdomen was suggestive of hepatic and splenic involvement. Chest X-ray and clinical findings were suggestive of congestive heart failure. This case is being reported because of its rarity, rare presentation of this disease at birth. It is important to identify this syndrome early so that appropriate investigations could be done to know the extent of visceral involvement and accordingly decide the management.