PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities

Frieden, Ilona J.

doi:10.1001/archderm.132.3.307

Cited by 358 publications

(386 citation statements)

References 22 publications

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“…1,2 Both environmental factors and genetic factors have been implicated. 1,2 Ocular studies in CHD are few and have concentrated on one cardiac anomaly, [3][4][5][6][7][8] one syndrome with cardiac anomaly, [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25] small series, single case reports, [26][27][28] or literature review. 29 Ocular findings in CHD were not revisited for the past 25 years.…”

Section: Introductionmentioning

confidence: 99%

Ocular pathology in congenital heart disease

Mansour

Bitar

Traboulsi

et al. 2004

Eye

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Section: Introductionmentioning

confidence: 99%

Ocular pathology in congenital heart disease

Mansour

Bitar

Traboulsi

et al. 2004

Eye

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“…6 Sternal clefting is associated with PHACES syndrome. 6,7 We think that our patient with a sternal cleft, hemangiomas, an aortic arch anomaly, and intracardiac defects had a variant of this syndrome. There is a considerably higher prevalence of PHACES in female infants than in male infants.…”

Section: Discussionmentioning

confidence: 87%

Superior Sternal Cleft Associated With PHACES Syndrome

Mazzie¹,

Lepore

Price³

et al. 2003

Journal of Ultrasound in Medicine

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ternal cleft is a rare congenital malformation caused by complete or partial failure of the sternum to fuse during the third month of embryologic development. Cleft sternums can be classified as superior, inferior, or complete. Sternal clefting is also associated with the PHACES syndrome, a neurocutaneous syndrome consisting of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, eye abnormalities, and sternal clefting with or without abdominal raphae. We present the case of a 1-day-old girl who was born at our institution with a variant of the PHACES syndrome. Although the sternal cleft was evident clinically, sonography provided additional information compared with plain radiography in showing the extent of the anterior chest wall abnormalities. The literature on this rare condition is reviewed.

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“…23 Since that time, numerous inclusions and modifications have been proposed, resulting in what is now known as PHACE or PHACES syndrome. 8,9,11,15,19 This condition poses somewhat of a diagnostic challenge as it can express itself as many different phenotypes. This has resulted in some confusion between "typical and atypical" cases, as well as between PHACE(S) and conditions such as Sturge-Weber syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Several other potential cases have been reported documenting arterial ischemic stroke (AIS), seizures, and progressive neurological deficits in PHACE patients, [1][2][3]9,17,22,23 but incomplete information prevents definitive diagnosis. Furthermore, retrospective studies have reported progressive arterial occlusions and stenosis occurring in 20.9% and 18.3% of PHACE patients, respectively, with progression being shown to occur as quickly as over the course of 1 month on follow-up neurovascular imaging.…”

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confidence: 99%

Bilateral pial synangiosis in a child with PHACE syndrome

Jack¹,

Chow²,

Fiorillo

et al. 2016

PED

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The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.

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PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities

Cited by 358 publications

References 22 publications

Ocular pathology in congenital heart disease

Ocular pathology in congenital heart disease

Superior Sternal Cleft Associated With PHACES Syndrome

Bilateral pial synangiosis in a child with PHACE syndrome

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