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Updated: Jun 27, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
An infant with a facial hemangioma and more
Geoffrey L Heyer1, Maria C Garzon
1Department of Neurology, Columbia University, New York, NY, USA. Geoffrey.Heyer@nationwidechildrens.org
Insights
PHACES syndrome is a rare neurocutaneous disorder. Prompt diagnosis and a multidisciplinary approach are crucial for managing infantile hemangiomas and associated extracutaneous features.
Area of Science:
- Neurocutaneous disorders
- Pediatric dermatology
- Vascular anomalies
Background:
- Infantile hemangiomas are common benign vascular tumors in children.
- Segmental infantile hemangiomas may indicate a systemic condition.
- Early recognition is key for timely intervention.
Observation:
- A case of PHACES syndrome is presented, featuring large facial infantile hemangiomas.
- Associated abnormalities included brain, cerebral vasculature, eyes, aorta, heart, and chest wall.
- The patient exhibited characteristic facial hemangioma with extracutaneous manifestations.
Findings:
- PHACES syndrome diagnosis requires a facial infantile hemangioma and at least one extracutaneous feature.
- Comprehensive diagnostic workup is recommended for all children with segmental infantile hemangiomas.
- Multidisciplinary evaluation involving dermatology, cardiology, ophthalmology, radiology, and neurology is essential.
Implications:
- This case highlights the importance of a thorough evaluation for infantile hemangiomas.
- A multidisciplinary approach improves diagnostic accuracy and patient management.
- Early identification and management of PHACES syndrome can prevent severe complications.
Abstract:
A patient with a neurocutaneous disorder characterized by large facial infantile hemangiomas and associated abnormalities of the brain, cerebral vasculature, eyes, aorta, heart, and chest wall is presented. All children presenting with segmental infantile hemangiomas should undergo a complete diagnostic workup. We encourage a multidisciplinary clinical approach that minimally includes evaluations by dermatology, cardiology, ophthalmology, radiology, and neurology. The diagnosis of PHACES syndrome is confirmed in a child presenting with the characteristic facial hemangioma and at least 1 associated extracutaneous feature.
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