Pulsating exophthalmos associated with neurofibromatosis.
A patient with pulsating exophthalmos is presented. He had facial asymmetry, multiple cutaneous café-au-lait spots and a subcutaneous nodule, biopsy of which showed features consistent with neurofibromatosis. Radiographs of the orbit showed a deficiency of the superolateral orbital wall, a feature previously recognized as part of neurofibromatosis. This feature probably occurs as a result of mesodermal dysplasia. The differential diagnosis and management are discussed.
D000328:Adult; D005094:Exophthalmos / Q000000981:diagnostic imaging / Q000473:pathology*; D005146:Facial Asymmetry / Q000000981:diagnostic imaging / Q000473:pathology; D005151:Facial Injuries / Q000473:pathology; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging / Q000473:pathology*; D009915:Orbit / Q000000981:diagnostic imaging; D011859:Radiography; D012878:Skin Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*