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Association of Hearing Loss with PHACE Syndrome

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Association of Hearing Loss with PHACE Syndrome OBSERVATION ONLINE FIRST Association of Hearing Loss With PHACE Syndrome Kelly J. Duffy, PhD; Christina Runge-Samuelson, PhD; Michelle L. Bayer, BS; David Friedland, MD, PhD; Cecille Sulman, MD; Robert Chun, MD; Joseph E. Kerschner, MD; Denise Metry, MD; Denise Adams, MD; Beth A. Drolet, MD Background: PHACE syndrome describes a spectrum nance imaging features of lesions consistent with of anomalies associated with large facial infantile hem- intracranial hemangiomas involving auditory struc- angiomas and characterized by posterior fossa malfor- tures. All 6 patients had facial hemangiomas in a nearly mations, hemangiomas, arterial anomalies, coarctation identical distribution ipsilateral to the ear with the hear- of the aorta and cardiac defects, and eye abnormalities. ing loss, with involvement of the proposed facial seg- With improved recognition and imaging practices of ments S1 and S3, the affected ear, the periauricular re- infants with PHACE syndrome, additional associations gion, and the midoccipital area of the scalp. have been identified. To our knowledge, the potential association of ipsilateral hearing loss and PHACE syn- Conclusions: There is an underrecognized risk of hear- drome has not been previously emphasized. ing loss in patients with PHACE syndrome, although the exact nature of such deficiencies can vary. Patients with Observations: We describe 6 patients, 4 with definite PHACE syndrome who have cutaneous hemangiomas in- and 2 with probable PHACE syndrome, according to the volving the ear should be evaluated for intracranial hem- new diagnostic criteria, and associated auditory deficien- angiomas and monitored for hearing loss. Early detec- cies. One patient had isolated conductive hearing loss; tion and therapy of intracranial hemangiomas may slow 2 patients had isolated sensorineural hearing loss; 1 pa- or stop tumor growth, resultant hearing loss, and struc- tient had mixed hearing loss (both conductive and sen- tural damage. sorineural components); and 1 patient had hearing loss that was inconclusive at the time. Also, 1 patient had con- Arch Dermatol. 2010;146(12):1391-1396. ductive loss and auditory neuropathy and auditory dys- Published online August 16, 2010. synchrony. Four of the 6 patients had magnetic reso- doi:10.1001/archdermatol.2010.201 HACE SYNDROME (ONLINE REPORT OF CASES Mendelian Inheritance in Man [OMIM] 606519) describes a CASE 1 spectrum of anomalies asso- ciated with large facial infan- A female infant presented with a large seg- tile hemangiomas (IHs): posterior fossa P mental IH involving the right side of the malformations, hemangiomas, arterial forehead, the right cheek, and the bottom anomalies, coarctation of the aorta and car- lip, with extension to the right ear, the pa- diac defects, and eye abnormalities. With in- rietal and occipital scalp area, and the an- creased awareness of the syndrome and terior aspect of the chest (Figure 1A). She more comprehensive evaluations, addi- met diagnostic criteria for definite PHACE tional associations, including otolaryngo- syndrome according to magnetic reso- logical, have been reported. While recent nance imaging (MRI) findings of a hypo- case reports have suggested a potential link plastic right cerebellum and magnetic between PHACE syndrome and hearing resonance angiographic findings of a hy- loss,1,2 this association has not been de- poplastic distal right internal carotid ar- scribed in detail (to our knowledge). We de- tery and a hypoplastic left posterior com- scribe 6 patients, 4 with definite and 2 with municating artery. Magnetic resonance probable PHACE syndrome, according to imaging of the nasopharynx showed con- the new diagnostic criteria, and auditory im- siderable impingement of the right eusta- Author Affiliations are listed at pairments and review prior reports with chian tube by a lesion that showed imaging the end of this article. similar features. features consistent with an IH (Figure 2). (REPRINTED) ARCH DERMATOL/ VOL 146 (NO. 12), DEC 2010 WWW.ARCHDERMATOL.COM 1391 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021 A B Figure 1. Segmental distribution of hemangiomas in patients 1 (A) and 4 (B) involving proposed facial segments S1 and S3. There is also involvement of the entire ear and the periauricular region as well as extension to the midoccipital area of the scalp. Figure 2. Magnetic resonance images revealing a lesion consistent with an intracranial hemangioma infringing on the right eustachian tube in patient 1 (circled portions). Repeated otoacoustic emissions testing from newborn carotid artery stenosis. An echocardiogram also showed screening through 6 months of age showed no otoacous- a small, muscular ventricular septal defect and patent tic emissions from the right ear. Tympanometry per- foramen ovale. formed at 6 months showed a right-sided reduction in tym- The patient passed a neonatal hearing screen in her panic membrane mobility with negative middle ear right ear but was referred for further audiometric test- pressure. Air and bone conduction auditory brainstem re- ing owing to abnormal results in her left ear. At 3 months sponse testing using click stimuli at 10 months of age in- of age, otoacoustic emissions results showed normal coch- dicated a right-sided, conductive hearing loss. These re- lear function in the right ear and absent cochlear func- sults were consistent with right middle ear dysfunction. tion in the left ear; middle ear function was normal in both ears. Auditory brainstem response testing was con- CASE 2 ducted at this time, and responses to click stimuli and 250- and 1000-Hz tone-burst stimuli revealed moderate A female infant presented for evaluation of a large IH hearing loss in the left ear. Magnetic resonance imaging that extended over the left side of her face and involved at 3 months of age did not show intracranial extension the upper and lower eyelids, the lateral aspect of the of the IH or involvement of internal auditory structures, upper lip, the preauricular skin, the left ear, and the although computed tomography at 11 months of age dem- parietal region of the scalp. She met diagnostic criteria onstrated a prominent enhancing region within an ex- for definite PHACE syndrome according to MRI find- panded left internal auditory canal, a large cochlear ap- ings of a Dandy-Walker malformation and magnetic erture, and prominence of the labyrinthine facial canal resonance angiographic findings of right internal proximally. A dedicated internal auditory canal MRI has (REPRINTED) ARCH DERMATOL/ VOL 146 (NO. 12), DEC 2010 WWW.ARCHDERMATOL.COM 1392 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021 not been performed to evaluate the enhancing region; served in 3 patients. In 2 of these 3 patients, the conduc- however, the combined results of tympanometry, oto- tive hearing loss was unilateral and could be directly at- acoustic emissions testing, and auditory brainstem re- tributable to occlusion of the eustachian tube by the IH. sponse testing suggested sensorineural hearing loss in the In the third patient (case 6), the conductive hearing loss left ear. was thought to be attributable to a middle ear effusion because (1) the conductive hearing loss was bilateral, (2) there was no occlusion of the external ear canal, and COMMENT (3) MRI did not reveal occlusion of the eustacian tube. Sensorineural hearing loss was definitively observed in In 1996, Frieden et al3 introduced the PHACE acronym another 3 patients, 2 of whom had unilateral hearing loss. to describe the association of a large, cervicofacial he- The etiology of unilateral sensorineural hearing loss in mangioma with the following extracutaneous complica- children is multifactorial and includes genetic defects that tions: posterior fossa brain malformations, hemangio- affect sensory and neural function and anatomical and mas, arterial cerebrovascular anomalies, cardiovascular developmental abnormalities. Defects may manifest at any anomalies, and eye anomalies. PHACE syndrome is un- point along the auditory pathway, from the cochlea to common but not rare, with well over 300 cases reported the central nervous system. Two of our patients (cases 4 in the literature. While the exact prevalence of the syn- and 5) had unilateral sensorineural hearing loss that could drome is unknown, a recent prospective study using stan- be directly attributable to the IH affecting cranial nerve dardizing screening protocols and strict diagnostic cri- VIII in the internal auditory canal (Figure 3). The other teria for the syndrome demonstrated a 31% incidence patient (case 2) did not have any quality images at 3 among infants with facial IHs larger than 22 cm2..4 Such months of age to definitively address involvement of the efforts will positively affect future PHACE studies be- IH or its association with any internal auditory struc- cause more complete evaluations of at-risk patients are tures, and computed tomograms at 11 months of age were being performed and extracutaneous anomalies other- only suggestive of a possible intracranial IH; therefore, wise common to the normal population (so-called nor- the exact cause of her sensorineural hearing loss could mal variants) are now excluded from the criteria for de- not be verified. finitive diagnosis. One of our patients (case 6) was uniquely diagnosed We describe 6 patients, 4 with definite and 2 with prob- as having bilateral auditory neuropathy and auditory
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