title: Association of hearing loss with PHACE syndrome.
abstract: 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.
  
  
  METHODS
  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.
authors: Department of Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: Kelly J
authors: KJ
authors: Duffy
authors: Christina
authors: C
authors: Runge-Samuelson
authors: Michelle L
authors: ML
authors: Bayer
authors: David
authors: D
authors: Friedland
authors: Cecille
authors: C
authors: Sulman
authors: Robert
authors: R
authors: Chun
authors: Joseph E
authors: JE
authors: Kerschner
authors: Denise
authors: D
authors: Metry
authors: Denise
authors: D
authors: Adams
authors: Beth A
authors: BA
authors: Drolet
mesh_terms: D000158:Acoustic Impedance Tests; D001017:Aortic Coarctation / Q000150:complications / Q000175:diagnosis; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D034381:Hearing Loss / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000175:diagnosis; D017084:Otoacoustic Emissions, Spontaneous; D013577:Syndrome