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Association of hearing loss with PHACE syndrome. Arch Dermatol 2010 Dec;146(12):1391-6 PMID: 20713775

Pubmed ID





BACKGROUND: PHACE syndrome describes a spectrum of anomalies associated with large facial infantile hemangiomas and characterized by posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. With improved recognition and imaging practices of infants with PHACE syndrome, additional associations have been identified. To our knowledge, the potential association of ipsilateral hearing loss and PHACE syndrome has not been previously emphasized.

OBSERVATIONS: We describe 6 patients, 4 with definite and 2 with probable PHACE syndrome, according to the new diagnostic criteria, and associated auditory deficiencies. One patient had isolated conductive hearing loss; 2 patients had isolated sensorineural hearing loss; 1 patient had mixed hearing loss (both conductive and sensorineural components); and 1 patient had hearing loss that was inconclusive at the time. Also, 1 patient had conductive loss and auditory neuropathy and auditory dyssynchrony. Four of the 6 patients had magnetic resonance imaging features of lesions consistent with intracranial hemangiomas involving auditory structures. All 6 patients had facial hemangiomas in a nearly identical distribution ipsilateral to the ear with the hearing loss, with involvement of the proposed facial segments S1 and S3, the affected ear, the periauricular region, and the midoccipital area of the scalp.

CONCLUSIONS: There is an underrecognized risk of hearing loss in patients with PHACE syndrome, although the exact nature of such deficiencies can vary. Patients with PHACE syndrome who have cutaneous hemangiomas involving the ear should be evaluated for intracranial hemangiomas and monitored for hearing loss. Early detection and therapy of intracranial hemangiomas may slow or stop tumor growth, resultant hearing loss, and structural damage.

Author List

Duffy KJ, Runge-Samuelson C, Bayer ML, Friedland D, Sulman C, Chun R, Kerschner JE, Metry D, Adams D, Drolet BA


Robert H. Chun MD Associate Professor in the Otolaryngology department at Medical College of Wisconsin
Joseph E. Kerschner MD Provost, Executive Vice President, Dean, Professor in the Dean department at Medical College of Wisconsin


2-s2.0-78650493680   14 Citations

MESH terms used to index this publication - Major topics in bold

Acoustic Impedance Tests
Aortic Coarctation
Diagnosis, Differential
Eye Abnormalities
Follow-Up Studies
Hearing Loss
Infant, Newborn
Magnetic Resonance Imaging
Neurocutaneous Syndromes
Otoacoustic Emissions, Spontaneous
jenkins-FCD Prod-321 98992d628744e349846c2f62ac68f241d7e1ea70