Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare condition characterized by multiple venous malformations involving the skin and internal organs. The gastrointestinal tract is always involved and intestinal haemorrhage is the most frequent clinical manifestation associated with iron deficiency anaemia. We describe a 10-year-old girl who, since birth, presented numerous venous malformations all over her body and a lymphangioma in the right leg. At the age of 5 years, she also had a severe episode of gastric bleeding requiring a blood transfusion. From this episode, she is suffering from chronic anaemia and this is the reason for admission into our hospital. The endoscopic examination of the gastrointestinal tract revealed multiple giant venous malformations in the oesophagus, stomach, duodenum and in all visible sections of the colon. Endoscopy is the gold standard technique for the diagnosis of BRBNS with GI lesions and also allows immediate therapeutic measures such as argon plasma coagulation, laser photocoagulation, sclerotherapy or band ligation. In addition, pharmacological treatments based on corticosteroids, interferon alfa, vincristine or octreotide have been described for BRBNS.
Conclusion: Blue Rubber Bleb Nevus Syndrome is a congenital cutaneous and gastrointestinal haemangiomatosis. Its morbidity and mortality depends on involvement of visceral organs and particularly on GI bleeding. The treatment is based on pharmacological or surgical therapy. Overall, the most important step is the follow-up to the presence and the evolution of GI lesions and the possible bleeding.