Blue rubber bleb nevus syndrome: a clinical spectrum with correlation between cutaneous and gastrointestinal manifestations.

To the Editor, Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by distinctive cutaneous and gastrointestinal cavernous hemangiomas. Patients usually present with iron deficiency anemia from occult gastrointestinal bleeding or massive gastrointestinal bleeding in the emergent setting. Optimal management for these patients is unclear as a result of its rarity and anecdotal reporting. The authors recently treated a case of this rare disorder and reviewed the literature on surgically treated cases to define the role for surgical intervention in BRBNS. The patient is a Chinese boy who first presented at the age of 12 years for long-standing symptomatic anemia. He had a history of multiple hospital admissions for blood transfusions since the age of 5 years. There was no consanguinity and he had no family history of anemia. Clinical examination was unremarkable except for a solitary but prominent cavernous hemangioma over his left heel (Fig. 1). This was tender on compression. His hemoglobin level on admission was 6.0 g/dL and this was iron deficient in profile. Subsequently, he had multiple readmissions for symptomatic anemia requiring blood transfusions. Extensive investigations that included hemoglobin electrophoresis, Meckel’s radionuclide scan, gastroscopy, colonoscopy, small bowel enema and a 3-vessel angiogram were normal with no lesion or bleeding noted. The only positive finding was a Technicium (Tc-99) red blood cell tagged scan that showed intermittent bleeding from three foci in the small bowel in 1995. A diagnosis of BRBNS was made and he was followed up closely and given supportive treatment. He subsequently had five further hospital admissions for occult gastrointestinal bleeding requiring blood transfusions. Repeated upper and lower gastrointestinal endoscopies failed to show any lesions to account for this. Repeat Tc-99m red blood cells tagged scan performed during an admission for symptomatic anemia in 2001 demonstrated mild intermittent bleeding from the small bowel at three similar foci in the small intestines. The decision for operative intervention was made after following him up for 9 years in view of the increasing severity of bleeding episodes and frequent need for blood transfusions. At laparotomy, two characteristic cavernous hemangiomas were found in the mid-jejunum. An intussuseption of one of the hemangioma into the adjacent small bowel was also noted. Detailed examination of the whole gastrointestinal tract with intraoperative endoscopy showed no other hemangiomas and the two affected segments of the small bowel were resected. Pathological examination confirmed dilated cavernous blood-filled spaces in the small intestinal wall. He was well on follow up 20 months after the operation with no further gastrointestinal bleeding. He did not require any further oral iron supplementation and had no limitations of his physical activities. This is a rare disorder characterized by distinctive vascular malformations of the skin and gastrointestinal