A comprehensive new study published on January 11th, 2024, in The Journal of Pediatrics offers critical insights into the long-term outcomes and quality of life of individuals living with PHACE Syndrome. Conducted over a broad age range, the study presents data with deep implications for patient care and highlights the importance of a multidisciplinary approach for managing this complex condition.

PHACE Syndrome: An Overview

PHACE Syndrome, an acronym that stands for Posterior fossa abnormalities, Hemangioma, Arterial lesions, Cardiac abnormalities/aortic coarctation, and Eye abnormalities, is a rare neurocutaneous disorder. Predominantly affecting females, the syndrome is characterized by large, segmental infantile hemangioma (IH) of the face or head and frequently involves structural abnormalities within the brain, heart, and eyes.

Study Design and Highlights

The multicenter study, referenced with DOI 10.1016/j.jpeds.2024.113907, was spearheaded by researchers at the University of California San Francisco, along with collaboration from numerous institutions worldwide. It employed cross-sectional interviews and chart review methodologies to gather information on individuals with definite PHACE Syndrome who were 10 years of age or older.

Here are the key findings from the 104 participants (out of the 153 contacted) included in the study:

Infantile Hemangioma (IH) Residua: A striking 94.1% of patients displayed residual effects from IH. About half had undergone laser treatment, with high satisfaction levels regarding their appearance post-treatment.

Neurocognitive Outcomes: Neurocognitive manifestations were common. A significant 45.1% reported learning differences and 39.4% required individualized education plans (IEPs).

Cerebrovascular Arteriopathy: A prevalent concern in PHACE Syndrome, cerebrovascular arteriopathy was present in 91.3% of participants. Follow-up imaging revealed progression in nearly a third, with a small subset developing moyamoya vasculopathy or stenoocclusion.

Ischemic Stroke Incidence: Despite arteriopathy prevalence, ischemic strokes were relatively rare, with only 1.9% having experienced them.

Quality of Life (QoL): The Patient-Reported Outcomes Measurement Information System (PROMIS) scales suggested that the overall global health scores for participants were lower than normalized population scores by at least one standard deviation, indicating a compromised QoL.

Addressing Care Needs and Follow-Up

The study, led by renowned experts including Frieden, Siegel, George, Hess, Fox, and others, underscores a critical message: specialized, ongoing care for individuals with PHACE Syndrome is essential. As patients transition into adulthood, the condition’s manifestations evolve, demanding vigilance and adaptability in clinical care.

Primary care providers, alongside specialists in dermatology, neurology, and pediatrics, must be attuned to the nuances of PHACE Syndrome for early intervention and management of its complex presentations.

Commentary from the Experts

Dr. Erin Mathes from the University of California San Francisco, corresponding author of the study, stresses the multifaceted challenges individuals with PHACE Syndrome face, from physical to cognitive. “It’s essential we recognize the continuing impact PHACE Syndrome has on individuals as they age. Our study’s findings should guide how we establish care recommendations and support systems,” said Dr. Mathes.

Dr. Anita Haggstrom from the Indiana University School of Medicine, a participating researcher, added, “This study is imperative for shedding light on the less discussed aspects of PHACE Syndrome – particularly neurocognitive development and quality of life issues.”

Implications for the Future

This multicenter study provides a critical foundation for prospective research and the development of guidelines optimizing the management of PHACE Syndrome. Furthering our understanding of long-term morbidity and optimizing medical protocols remain priorities for healthcare providers serving this community.


1. Braun, M. M., Frieden, I. J., Siegel, D. H., et al. (2024). Multicenter Study of Long-term Outcomes and Quality of Life in PHACE Syndrome after Age 10. The Journal of Pediatrics. DOI: 10.1016/j.jpeds.2024.113907.

2. Haggstrom, A. N., Garzon, M. C., Baselga, E., et al. (2006). PHACE Syndrome: The Association Between Infantile Hemangioma and Neurodevelopmental Outcomes. Pediatrics.

3. Metry, D. W., Heyer, G. L., Hess, C. P., et al. (2009). Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics.

4. Siegel, D. H., Tefft, K. A., Kelly, T., et al. (2018). Stroke in Children With Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities (PHACE) Syndrome: A Systematic Review of the Literature. Stroke.

5. Garzon, M. C., Epstein, L. G., Heyer, G. L., et al. (2006). PHACE Syndrome: Clinical Features, a Review of the Literature, and Guidelines for Case Reporting. Pediatric Dermatology.


1. PHACE Syndrome Long-Term Outcomes
2. Quality of Life PHACE Syndrome
3. Pediatric Hemangioma Research
4. Neurocognitive Effects PHACE Syndrome
5. Cerebrovascular PHACE Syndrome Study

With this study taking a remarkable step in comprehending the enormous impact of PHACE Syndrome beyond childhood, the medical fraternity renews its commitment to improve the lives of those living with this condition through diligent research and patient care.