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Risk for PHACE syndrome in infants with large facial hemangiomas
Anita N Haggstrom1, Maria C Garzon, Eulalia Baselga
1Department of Dermatology and Pediatrics, Division of Biostatistics, Indiana University, Indianapolis, Indiana, USA. ahaggstr@iupui.edu
Insights
One-third of infants with large facial hemangiomas have PHACE syndrome, characterized by brain, arterial, cardiac, and eye anomalies. Cerebrovascular and cardiac issues were most common, highlighting the need for early detection in infants with facial hemangiomas.
Area of Science:
- Pediatric Neurology
- Medical Genetics
- Dermatology
Background:
- PHACE syndrome involves posterior fossa, arterial, cardiac, and eye anomalies.
- Extracutaneous manifestations of PHACE can lead to significant morbidity.
- Prevalence of PHACE in infants with facial hemangiomas is not well-established.
Purpose of the Study:
- Determine the prevalence of PHACE in infants with large facial hemangiomas.
- Identify extracutaneous manifestations associated with PHACE.
- Analyze the relationship between hemangioma distribution and PHACE.
Main Methods:
- Multicenter prospective study of 108 infants with large facial hemangiomas.
- Systematic evaluation for PHACE manifestations.
- Analysis of hemangioma distribution and PHACE association.
Main Results:
- 31% of infants had PHACE syndrome.
- Most PHACE patients had multiple extracutaneous findings.
- Cerebrovascular (91%) and cardiac (67%) anomalies were most frequent.
Conclusions:
- One-third of infants with large facial hemangiomas have PHACE syndrome.
- Cerebrovascular and cardiovascular anomalies are the most common manifestations.
- Findings impact clinical management and research into PHACE pathophysiology.
Objectives:
This study was conducted to determine the prevalence of posterior fossae of the brain, arterial anomalies, cardiac anomalies, and eye anomalies (PHACE) in infants with large facial hemangiomas. The extracutaneous manifestations of PHACE may be associated with significant morbidity, and the prevalence of PHACE in patients with facial hemangiomas has not previously been reported.
Methods:
A multicenter prospective study was conducted with 108 infants who had large facial hemangiomas and were systematically evaluated for manifestations of PHACE. The prevalence of PHACE and its extracutaneous manifestations in this cohort was calculated. The relationship between hemangioma distribution and the manifestations of PHACE was analyzed.
Results:
Thirty-three (31%) of 108 had PHACE. Thirty of the 33 patients with PHACE had >1 extracutaneous finding. The risk for PHACE syndrome was higher in infants with larger hemangiomas and in those with hemangiomas that encompassed >1 facial segment. The most common extracutaneous anomalies observed in infants with PHACE were of the arteries of the cerebrovasculature (91%) and cardiac anomalies (67%). Upper face (frontotemporal and frontonasal) hemangiomas were commonly observed in infants with PHACE; isolated maxillary hemangiomas were rarely associated with PHACE.
Conclusions:
In infants with large facial hemangiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome, most commonly cerebrovascular and cardiovascular anomalies. The high prevalence of arterial anomalies in this cohort has implications for clinical management and future research regarding the pathophysiology of PHACE.
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