Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome

Elizabeth George¹, Mitchell Braun², Rachel Vassar³, Christine K Fox³, Dawn H Siegel⁴, Erin Mathes²; PHACE >10yr Study Group; Collaborators in PHACE >10yr Study Group

Collaborators, Affiliations

Collaborators

PHACE >10yr Study Group:
Ilona J Frieden⁵, Christopher P Hess⁶
Collaborators in PHACE >10yr Study Group:
Beth A Drolet⁷, Denise Metry⁸, Elena Pope⁹, Julie Powell¹⁰, Kristen E Holland¹¹, Marilyn G Liang¹², Eulalia Baselga¹³, Irene Lara-Corrales⁹, Tracy Funk¹⁴, Alison Small¹⁴, Albert C Yan¹⁵, James R Treat¹⁵, Anita Haggstrom¹⁶, Catherine C McCuaig⁹, Victoria Barrio¹⁷, Anthony J Mancini¹⁸, Sarah L Chamlin¹⁸, Leslie P Lawley¹⁹, Kimberly A Horii²⁰, Brandon Newell²⁰, Amy Nopper²⁰, Maria C Garzon²¹

Affiliations

¹ Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA. Electronic address: Elizabeth.george@ucsf.edu.
² Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.
³ Department of Neurology and Pediatrics, University of California San Francisco, San Francisco, CA, USA.
⁴ Department of Dermatology, Stanford University, Palo Alto, CA, USA.
⁵ Department of Dermatology and Pediatrics, University of California San Francisco, San Francisco, CA, USA.
⁶ Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA.
⁷ Department of Dermatology, University of Wisconsin Madison, Madison, WI, USA.
⁸ Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
⁹ Division of Dermatology, Hospital for Sick Children, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada.
¹⁰ Division of Dermatology, Department of Pediatrics, Sainte-Justine University Hospital Center, University of Montreal, Montreal, Quebec, Canada.
¹¹ Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI, USA.
¹² Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹³ Department of Dermatology, Hospital San Joan de Deu, Barcelona, Spain.
¹⁴ Departments of Dermatology and Pediatrics, Oregon Health & Science University, Portland, OR, USA.
¹⁵ Department of Pediatrics and Dermatology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
¹⁶ Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.
¹⁷ Department of Dermatology, Rady Children's Hospital, University of California San Diego, San Diego, CA, USA.
¹⁸ Division of Dermatology, Ann and Robert H. Lurie Children's Hospital of Chicago; Departments of Pediatrics and Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
¹⁹ Department of Dermatology, Emory University School of Medicine, Atlanta, GA, USA.
²⁰ Division of Dermatology, Children's Mercy Hospital and Clinics, Kansas City, MO, USA.
²¹ Departments of Dermatology and Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.

PMID: 41702291
DOI: 10.1016/j.ejpn.2026.02.004

Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome

Elizabeth George et al. Eur J Paediatr Neurol. 2026.

. 2026 Feb 7:61:1-7.

doi: 10.1016/j.ejpn.2026.02.004. Online ahead of print.

Authors

Elizabeth George¹, Mitchell Braun², Rachel Vassar³, Christine K Fox³, Dawn H Siegel⁴, Erin Mathes²; PHACE >10yr Study Group; Collaborators in PHACE >10yr Study Group

Collaborators

PHACE >10yr Study Group:
Ilona J Frieden⁵, Christopher P Hess⁶
Collaborators in PHACE >10yr Study Group:
Beth A Drolet⁷, Denise Metry⁸, Elena Pope⁹, Julie Powell¹⁰, Kristen E Holland¹¹, Marilyn G Liang¹², Eulalia Baselga¹³, Irene Lara-Corrales⁹, Tracy Funk¹⁴, Alison Small¹⁴, Albert C Yan¹⁵, James R Treat¹⁵, Anita Haggstrom¹⁶, Catherine C McCuaig⁹, Victoria Barrio¹⁷, Anthony J Mancini¹⁸, Sarah L Chamlin¹⁸, Leslie P Lawley¹⁹, Kimberly A Horii²⁰, Brandon Newell²⁰, Amy Nopper²⁰, Maria C Garzon²¹

Affiliations

¹ Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA. Electronic address: Elizabeth.george@ucsf.edu.
² Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.
³ Department of Neurology and Pediatrics, University of California San Francisco, San Francisco, CA, USA.
⁴ Department of Dermatology, Stanford University, Palo Alto, CA, USA.
⁵ Department of Dermatology and Pediatrics, University of California San Francisco, San Francisco, CA, USA.
⁶ Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA.
⁷ Department of Dermatology, University of Wisconsin Madison, Madison, WI, USA.
⁸ Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
⁹ Division of Dermatology, Hospital for Sick Children, Temerty Faculty of Medicine, University of Toronto, Toronto, Canada.
¹⁰ Division of Dermatology, Department of Pediatrics, Sainte-Justine University Hospital Center, University of Montreal, Montreal, Quebec, Canada.
¹¹ Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI, USA.
¹² Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
¹³ Department of Dermatology, Hospital San Joan de Deu, Barcelona, Spain.
¹⁴ Departments of Dermatology and Pediatrics, Oregon Health & Science University, Portland, OR, USA.
¹⁵ Department of Pediatrics and Dermatology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
¹⁶ Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.
¹⁷ Department of Dermatology, Rady Children's Hospital, University of California San Diego, San Diego, CA, USA.
¹⁸ Division of Dermatology, Ann and Robert H. Lurie Children's Hospital of Chicago; Departments of Pediatrics and Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
¹⁹ Department of Dermatology, Emory University School of Medicine, Atlanta, GA, USA.
²⁰ Division of Dermatology, Children's Mercy Hospital and Clinics, Kansas City, MO, USA.
²¹ Departments of Dermatology and Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.

PMID: 41702291
DOI: 10.1016/j.ejpn.2026.02.004

Abstract

Background: Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies (PHACE) is a neurocutaneous disorder characterized by various neuroimaging abnormalities, including cranio-cervical arterial anomalies. The purpose of this multi-center study is to assess the long-term evolution of neuroimaging findings in PHACE, with focus on progressive arteriopathy and intracranial hemangioma.

Methods: Patients with definite PHACE who were ≥10 years of age were recruited from 16 sites. A pediatric neuroradiologist retrospectively reviewed clinical MRI/MRA or CTA reports collected from two timepoints: neuroimaging performed closest to 1 year of life and the latest available neuroimaging at the time of recruitment. Brain structural abnormalities (including intracranial hemangiomas), infarcts, cerebrovascular anomalies (including vascular risk score) and evidence of progressive arteriopathy were identified.

Results: Study included 83 patients with definite PHACE (median age at recruitment: 14 years (IQR: 12-18)) with a median of 9 years (IQR: 6-12) between scans. Progression of arteriopathy was identified in 20/68 (29.4%), including 5/68 (7%) with Moyamoya arteriopathy. The vascular risk score at initial imaging was not associated with progressive arteriopathy. Two children (2%) had infarcts; one of whom had a progressive arteriopathy. The presence of intracranial hemangioma was associated with Meckel's cave enlargement and follow-up imaging suggests Meckel's cave enlargement may at least partly be related to involution of an intracranial hemangioma.

Conclusion: Almost one third of children with PHACE had a progressive cerebrovascular arteriopathy on long term follow-up imaging, but infarcts were rare. Further research is necessary to guide recommendations on duration and frequency of imaging surveillance.

Keywords: Arteriopathy; MRA; Neurocutaneous; PHACE; Vasculopathy.

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Conflict of interest statement

Conflict of interest This project was (partially) funded by a Career Bridge Research Grant from the Pediatric Dermatology Research Alliance (PeDRA) (DH Siegel). Elizabeth George was funded by the UCSF Weill Award for Clinician-Scientists in the Neurosciences. No conflicts of interest for any of the authors.

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Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome

Collaborators

Affiliations

Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

LinkOut - more resources

Full Text Sources