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Consensus Statement on Diagnostic Criteria for PHACE Syndrome.

Denise Metry¹, Geoffrey Heyer, Christopher Hess

¹Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.

|October 28, 2009

Summary

PHACE syndrome, a neurocutaneous disorder, now has established diagnostic criteria. These criteria help identify patients with infantile hemangiomas and associated structural anomalies, improving diagnosis and assessment.

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Area of Science:

Medical Genetics
Pediatric Neurology
Dermatology

Background:

PHACE syndrome is a neurocutaneous disorder characterized by infantile hemangiomas and associated structural anomalies.
Current diagnostic approaches are broad, leading to uncertainty regarding the significance of reported associated features.
There is a need for standardized diagnostic criteria to improve patient identification and management.

Purpose of the Study:

To establish clear and consensus-based diagnostic criteria for PHACE syndrome.
To differentiate between definite and possible PHACE syndrome.
To refine the diagnostic approach for this rare condition.

Main Methods:

A multidisciplinary expert group reviewed medical literature and clinical experience.
Consensus methods were employed during dedicated sessions at the PHACE Syndrome Research Conference.
Recommendations were reconciled through electronic communication and teleconferencing.

Main Results:

Diagnostic criteria were stratified into "PHACE syndrome" and "possible PHACE syndrome."
Criteria include major and minor categories for cerebrovascular, brain, cardiovascular, ocular, and ventral/midline anomalies.
Definite PHACE requires a characteristic segmental hemangioma plus specific criterion combinations; possible PHACE has alternative criteria, including cases without cutaneous hemangiomas.

Conclusions:

The established criteria represent current knowledge and aim to enhance future PHACE syndrome assessments.
These criteria are expected to evolve with new research findings.
Standardized criteria will aid in more accurate diagnosis and research.