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.