PHACE syndrome and hearing loss

Polanski, José Fernando; Veras, Rodrigo de Oliveira; Lucinda, Lucas Resende; Santos, Vanessa Mazanek

doi:10.1590/abd1806-4841.20197729

Cited by 3 publications

(2 citation statements)

References 3 publications

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“…The data from our series indicating a high prevalence of internal auditory canal involvement add to this literature. Some authors suggest dedicated imaging of the auditory apparatus, as well as thorough assessment of auditory functions in patients with superficial hemangiomas involving the external ear, 27,39 though as we have shown, IAC hemangiomas can be seen in patients having segmental hemangiomas in segments not involving the external ear. Even subtle imaging findings of auditory apparatus involvement with hemangiomas may, therefore, result in a monitoring strategy toward a more detailed clinical evaluation and imaging followup.…”

Section: Discussionmentioning

confidence: 62%

Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes

Feygin

Goldman‐Yassen

Licht

et al. 2021

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Infantile hemangiomas are common lesions in the pediatric population; in rare cases, an infantile hemangioma can be detected along the neural axis. The purposes of our study included determination of the incidence, location, and imaging appearance of neuroaxial infantile hemangiomas and their syndromic association. We also assessed additional features of cerebral and cardiovascular anomalies that may be associated with neuroaxial lesions. MATERIALS AND METHODS:A retrospective cohort study was performed, searching the radiology database for patients with segmental infantile hemangiomas referred for assessment of possible hemangioma syndromes. We retrospectively reviewed brain and spine MR imaging studies, with particular attention paid to neuroaxial vascular lesions, as well as the relevant clinical data. Neuroaxial hemangioma imaging findings were described, and comparison of segmental cutaneous infantile hemangioma location with the imaging findings was performed in patients with confirmed hemangioma syndromes and in patients with isolated skin infantile hemangioma.RESULTS: Ninety-five patients with segmental infantile hemangioma were included in the study, 42 of whom had a hemangioma syndrome; of those, 41 had posterior fossa brain malformations, hemangioma, arterial lesions, cardiac abnormalities, and eye abnormalities (PHACE) syndrome and 1 had diffuse neonatal hemangiomatosis. Neuroaxial involvement was detected in 20/42 patients (48%) with hemangioma syndromes and in no subjects with isolated segmental infantile hemangioma (P , .001). The most common intracranial hemangioma location was within the ipsilateral internal auditory canal (83%).CONCLUSIONS: Many pediatric patients with segmental infantile hemangioma in the setting of hemangioma syndromes, especially those with PHACE, had neuroaxial hemangiomas. This finding may potentially lead to requiring additional clinical evaluation and management of these patients.ABBREVIATIONS: IAC ¼ internal auditory canal; IH ¼ infantile hemangioma; MC ¼ Meckel cave; PHACE ¼ posterior fossa brain malformations, hemangioma, arterial lesions, cardiac abnormalities, and eye abnormalities I nfantile hemangiomas (IHs) are benign vascular tumors common in infants. [1][2][3] IHs express endothelial glucose transporter 1, differentiating them from other pediatric vascular tumors. 4 Unlike congenital hemangiomas, IHs are not

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Section: Discussionmentioning

confidence: 62%

Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes

Feygin

Goldman‐Yassen

Licht

et al. 2021

AJNR Am J Neuroradiol

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“…PHACE syndrome is occasionally associated with endocrine dysfunctions [ 5 ], Moyamoya vasculopathy [ 6 , 7 ], hearing loss [ 8 , 9 , 10 ], or genetic syndromes [ 11 ]. According to the PHACE Syndrome International Clinical Registry and Genetic Repository (USA, 12), a small number of cases have been reported in Europe, limiting the prevalence of the disease and its specific features to a small case series [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

“Face(s)” of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature

et al. 2022

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A rare, uncommon disorder called PHACE(S) (P-posterior fossa anomalies, H-hemangioma, A-arterial anomalies, C-cardiac anomalies, E-eye anomalies, and S-sternal cleft) of unknown etiology was rarely reported. Children are susceptible to developing PHACE(S) syndrome from the moment they are born. It may be challenging for a physician to appropriately diagnose and treat children with PHACE due to the multifaceted nature of the disease and the extensive range of consequences that may be associated with it. A one-month-old newborn girl was admitted to hospital with extensive, multiple facial infantile hemangiomas, ulceration of the lower lip hemangioma-like lesion, cardiovascular, sternal, and neurological concomitant malformations. Five days following the initial application of the medication, systemic treatment with propranolol and topical treatment with silver sulfadiazine produced their first noticeable benefits. The lip ulceration was mostly healed and facial hemangioma started to regress. The regression continued under therapy and this effect persists for 6 months since Propranolol therapy ended. No cardiovascular or neurological clinical events have been registered during follow-up. The present case has three peculiarities: (1) high number of facial hemangiomas; (2) presence of subependymal cyst not yet reported in the literature associated with PHACE syndrome; and (3) lack of cardiovascular events during therapy knowing that these events frequently appear in PHACE syndrome patients.

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Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study

Lamotte¹,

Paris²,

Euvrard³

et al. 2023

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PHACE syndrome and hearing loss

Cited by 3 publications

References 3 publications

Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes

Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes

“Face(s)” of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature

Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study

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