Rapamycin in the treatment of blue rubber bleb nevus syndrome.

The blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome is a relatively rare congenital disorder characterized by the presence of multiple cutaneous and visceral venous malformations, particularly in the digestive tract; the lesions progressively increase in number and size. These patients, particularly in the severe cases, typically develop intense chronic iron deficiency anemia secondary to recurrent gastrointestinal bleeding, and repeated transfusions and long-term iron therapy are necessary. There is currently no curative treatment. Surgical treatment of the lesions by endoscopic argon-plasma fulguration or intestinal resection with end-to-end anastomosis may be required in serious cases. Treatment with antiangiogenic drugs, such as corticosteroids, propranolol, and interferon alfa, has also been described, but the results have been poor. Recently, the efficacy of oral sirolimus (also known as rapamycin) has been reported in 2 cases of BRBNS. We present the case of a full-term newborn infant with a congenital tumor of 7 cm diameter that arose from the fronto-orbital region and occluded the left eye (Figure 1A). The lesion was surgically removed at 5 days of life. Histology revealed the presence of dilated vessels with a thin endothelium, calcifications, and a granulomatous reaction. The medical history excluded problems during gestation or delivery, as well as any family history of vascular disorders. Histological study of the placenta was not performed. At 4 months, a soft, bluish subcutaneous tumor appeared in the area of the scar, associated with multiple bluish papules of 0.2 to 0.5 cm diameter arising mainly on the trunk and limbs. With a suspected diagnosis of BRBNS, gastrointestinal endoscopy was performed and revealed multiple