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PHACE syndrome

Author
Dawn H Siegel, MD
Section Editor
Moise L Levy, MD
Deputy Editor
Rosamaria Corona, MD, DSc

INTRODUCTION

PHACE syndrome (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, and eye anomalies) is an uncommon disorder of unknown etiology characterized by large segmental hemangiomas of the face and various developmental defects. The term "PHACE(S)" is sometimes used in the presence of ventral developmental defects, which include sternal cleft, supraumbilical raphe, or both. Since the original description in 1996 [1], significant advances have been made in refining the diagnostic criteria, imaging guidelines, and knowledge of associated morbidities and complications [2]. Previous terms for this condition have included Pascual-Castroviejo syndrome [3] and sternal malformation-vascular dysplasia association [4].

This topic will review the pathogenesis, clinical features, diagnosis, and management of PHACE syndrome. Infantile hemangiomas are discussed separately:

(See "Infantile hemangiomas: Epidemiology, pathogenesis, clinical features, and complications".)

(See "Evaluation and diagnosis of infantile hemangiomas".)

(See "Infantile hemangiomas: Management".)

                                        

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Literature review current through: May 2017. | This topic last updated: Jun 19, 2017.
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References
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