PHACES syndrome: otolaryngic considerations in recognition and management.
OBJECTIVE
To describe the otolaryngic manifestations of PHACES and evaluate current diagnostic and management principles for these patients.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Rudnick
Emily F
EF
Department of Otolaryngology-Head and Neck Surgery, University of Washington, Seattle, Washington, USA.
Chen
Eunice Y
EY
Manning
Scott C
SC
Perkins
Jonathan A
JA
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D018376:Cardiovascular Abnormalities / Q000175:diagnosis; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D005153:Facial Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000601:surgery; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006391:Hemangioma / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis; D053685:Laser Therapy; D008048:Lip Neoplasms / Q000175:diagnosis / Q000601:surgery / Q000628:therapy; D010038:Otorhinolaryngologic Diseases / Q000175:diagnosis*; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000601:surgery; D013577:Syndrome; D014134:Tracheal Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000601:surgery; D014140:Tracheotomy
D005938:Glucocorticoids