PHACE syndrome: a frequently overlooked entity

Abstract

Infantile hemangiomas are the commonest vascular tumors of infancy. About 10% are associated with PHACE syndrome, a rare condition presenting with multiple systemic anomalies along with large cervicofacial hemangiomas. We present two case reports of this rare entity. First, a six year old female, with cutaneous hemangiomas involving the face and oral cavity, and extracutaneous hemangiomas involving the parotid glands, choroid and peripapillary region of the eye. MRI brain revealed presence of vascular malformations in the circle of Willis along with impingement of optic nerve. MRI head and neck region confirmed the presence of hemangiomas in bilateral parotid gland, right upper eyelid near medial canthus and in the suprasternal region. Second, a three-month-old female presenting with stridor along with hemangiomas involving segment 3 of face, oral cavity and parotid glands. CECT neck and Chest showed hemangiomas involving bilateral parotid and submandibular glands. Mediastinal involvement with extraluminal compression of airway was noted. Microlaryngobronchoscopy did not reveal presence of any airway hemangiomas. Ophthalmological examination showed signs of optic nerve hypoplasia. In both the cases, all the clinico-radiological findings were put together to establish the diagnosis. Both of them also showed significant response to the oral propranolol therapy. Due to the rarity and overlapping features of this syndrome, there is a high chance to overlook this diagnosis. A high index of suspicion and awareness about the features is needed to identify this condition and provide specific treatment.