PHACES syndrome: otolaryngic considerations in recognition and management

Area of Science:

• Pediatric Otolaryngology
• Medical Genetics
• Pediatric Cardiology

Background:

• PHACES (posterior fossa malformation, arteriovenous malformations, cardiac/aortic defects, eye anomalies, and sternal defect) is a rare condition.
• Segmental facial hemangiomas of infancy are a key diagnostic feature.
• Associated extracutaneous anomalies require multidisciplinary evaluation.

Purpose of the Study:

• To detail the otolaryngic (ear, nose, and throat) manifestations in patients with PHACES.
• To review current diagnostic and management strategies for PHACES patients.

Main Methods:

• Retrospective review of patients diagnosed with PHACES at a tertiary children's hospital.
• Evaluation included physical examination, audiology, swallow studies, polysomnography, and laryngoscopy.
• Diagnosis of extracutaneous manifestations utilized radiology, echocardiography, and EEG.

Main Results:

• Five patients met PHACES criteria, presenting with aortic anomalies, sternal clefting, or brain malformations.
• Otolaryngic findings included middle ear atelectasis, tympanic membrane hemangiomas, dysphagia, and airway hemangiomas.
• Treatments involved steroids, laser therapy, tracheotomy, tympanostomy tubes, and surgical resection.

Conclusions:

• PHACES diagnosis necessitates awareness of its association with systemic and airway issues.
• Otolaryngology manifestations of PHACES are infrequently documented.
• Management requires individualized, patient-specific approaches.