PHACE syndrome with parotid hemangiomas: a unique case report

Abstract

Background PHACE syndrome is a congenital disorder in infants characterized by the presence of large hemangiomas in the cervicofacial region along with congenital anomalies of the cardiovascular system, brain, and eyes. PHACE syndrome is an extremely rare condition, and PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Case presentation A 3-month-old female infant presented with cervicofacial plaques that later involved the left eyelids. The plaques blanched on application of pressure and were diagnosed to be hemangiomas. MRI and MRA studies of the brain showed extensive vascular malformations, agenesis of the left internal carotid artery, and hemangiomas in the parotid glands. A biopsy of the parotid glands confirmed the parotid hemangiomas. Bilateral cataracts and subclavian artery with an aberrant origin were also found. On the basis of the hemangiomas and the arterial, cardiovascular, and ocular abnormalities, PHACE syndrome was diagnosed. A multi-disciplinary treatment approach was begun, but the infant died 20 days after presentation to the hospital. Conclusions PHACE syndrome is an extremely rare condition that has only been described three hundred times in medical literature. It is usually associated with extensive structural, arterial, ocular, and cutaneous anomalies. However, PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Hemangiomas are the main diagnostic feature and the most common lesion of this disease. This strong association between PHACE syndrome and hemangiomas suggests the parotid hemangiomas seen in our case to be a new addition to the broad spectrum of anomalies associated with PHACE syndrome.