Exophthalmos due to Blue Rubber Bleb Syndrome

ABSTRACT

PURPOSE: Blue rubber bleb syndrome (BRBNS) is a rare disorder characterized by multiple, distinctive cavernous hemangiomas of the skin, and gastrointestinal tract. We investigated the surgical treatment and clinical findings for multiple hemangiomas in the orbit of a patient who had BRBNS on the skin and liver. METHODS: A 33-year-old white woman visited our clinic with the chief complaint of continuous exophthalmos of one year duration. She did not complain of ocular pain or decreased visual acuity. Nine years previously, her medical history showed the removal of a mass from her left arm, the result of histopathologic examination was multiple hemangiomas. Check-up for gastrointestinal lesions by colonoscopy was negative and all hematological parameters were normal. The orbital mass was surgically removed. Histopathological finding showed it to be the same as hemangioma. RESULTS: Multiple bluish nodules on the skin, visceral hemangioma, multiple hemangiomas in orbit led to the diagnosis of BRBNS. CONCLUSIONS: Multiple hemangiomas in orbit should be suspected as BRBNS, and therefore systemic evaluation is required to consider the association with BRBNS.