Publication:

A rare case of blue rubber bleb nevus syndrome

Blue rubber nevus bleb syndrome is a rare disease characterized by venous malformations and hemangiomas of skin and visceral organs. The incidence is very low, approximately 200 cases reported till date. Clinical manifestations can be present since birth or start in early childhood or adolescence. Most common symptom is gastrointestinal bleeds and secondary iron deficiency anemia. A 16-year-old female child presented with complaints of easy fatigability and breathlessness since 2 months, hematemesis and melena since 2 days. At admission, child was hemodynamically stable, Head to toe examination revealed severe pallor, angiokeratomas in oral cavity and multiple lesions over extremities and abdomen. Lab investigations revealed pancytopenia. Capsule endoscopy done revealed multiple lesions throughout stomach and entire small bowel measuring 0.5×0.5cms. Hence, considering as blue rubber bleb nevus syndrome received blood transfusion and started on sirolimus. Currently child is asymptomatic and continued with oral Sirolimus. Blue rubber bleb nevus syndrome is also known as Bean syndrome. It is a rare syndrome of venous malformations that arise in the skin and gastrointestinal tract. Usually involves cutaneous (93%), gastrointestinal (76%), central nervous system (13%), liver (11%), and muscles (7%). The small bowel is the most common site of gastrointestinal tract involvement; however, lesions can occur anywhere from the mouth to the anus. Treatment involves correction of anemia with transfusions and iron supplements. Pharmaceutical agents such as propranolol, octreotide, interferon alpha, thalidomide, antibrinolytics and most recently sirolimus have also been utilized. Blue rubber nevus bleb syndrome should be considered in any children with history of anemia, hematemesis and melena with cutaneous vascular malformations.