PHACES syndrome: Otolaryngic considerations in recognition and management

Abstract

To describe the otolaryngic manifestations of PHACES and evaluate current diagnostic and management principles for these patients. A retrospective review was performed within a tertiary children's hospital. Children with segmental facial hemangiomas of infancy and one extracutaneous manifestation comprising PHACES (posterior fossa malformation, arteriovenous malformations, cardiac/aortic defects, eye anomalies, and sternal defect) were identified. Otolaryngic problems were evaluated with physical examination, audiogram, swallow evaluation, polysomnography, and laryngoscopy. Extracutaneous manifestations were diagnosed using radiology, echocardiogram, and EEG. Treatment for cutaneous and airway hemangiomas included oral and intralesional steroids, CO(2) or pulse-dye laser, tracheotomy, and surgical excision. Management of extracutaneous problems was system-dependent. Of 246 children with segmental facial hemangiomas of infancy evaluated since January 2000, 5 girls (2.0%) met diagnostic criteria for PHACES. Mean age at last follow-up was 2.6 years (range 0.4-5.8). Each child had one extracutaneous manifestation of aortic anomaly (2/5), sternal clefting (2/5), and brain malformation (1/5). Otolaryngic abnormalities included middle ear atelectasis (1/5), tympanic membrane hemangiomas with conductive hearing loss (3/5), skin and cartilage ulceration (2/5), dysphagia (4/5), and airway hemangiomas with stridor (3/5). Three children received oral steroids and required pulse-dye laser for cutaneous hemangiomas of infancy. One child underwent tracheotomy. Additional interventions included tympanostomy tubes and resection of nasal hemangioma. Diagnosis of PHACES requires awareness of the association of facial hemangiomas of infancy with systemic and airway problems. Otolaryngology-related manifestations of PHACES are not commonly described, and management should be tailored to the individual patient.