Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment?

• Published in: European journal of pediatric surgery Vol. 12; no. 2; p. 129
• Main Authors: Dòmini, M, Aquino, A, Fakhro, A, Tursini, S, Marino, N, Di Matteo, S, Lelli Chiesa, P
• Format: Journal Article
• Language: English
• Published: United States 01.04.2002
• Subjects: Child; Female; Gastrointestinal Hemorrhage - etiology; Gastrointestinal Neoplasms - surgery; Hemangioma - surgery; Humans; Melena - etiology; Nevus, Blue - surgery; Skin Neoplasms - surgery; Syndrome
• ISSN: 0939-7248
• DOI: 10.1055/s-2002-30172

To describe a paediatric case of "Blue Rubber Bleb Nevus Syndrome" (BRBNS) or Bean's syndrome, a rare systemic disorder characterised by cutaneous and gastrointestinal vascular malformations that often lead to overt life-threatening gastrointestinal bleeding or occult blood loss with severe anaemia and iron deficiency. A 6-year-old girl with multiple characteristic cutaneous vascular lesions was admitted for a massive rectal bleeding. A few months previously she was endoscopically treated for gastric angiomas which developed into melaena. Preoperative investigations revealed the recurrence of gastric lesions. At laparotomy, more than 25 angiomas of the GI tract were found. Multiple intestinal resections were carried out. No intraoperative or postoperative problems occurred and the girl is completely healthy without further bleeding after a follow-up period of three years. BRBNS belongs to the group of vascular venous malformations. Most of the time it occurs sporadically, but it can be inherited as an autosomal dominant trait. Recent analysis identified a locus on chromosome 9 responsible for venous malformations. BRBNS patients present typical skin lesions, with some lesions having a rubber-like nipple appearance; the number of skin and GI lesions and the severity of anaemia are correlated. Treatment is dependent on the extent of gut involvement and the severity of the clinical picture. In the absence of massive bleeding, a conservative treatment will be sufficient; otherwise resections are mandatory, but additional lesions may subsequently develop. Management with electrocautery or laser photocoagulation are usually not effective even if some reports recommend them. Pharmacological treatment is useless. Prognosis of BRBNS is unknown.