PHACE syndrome, a series of six patients: clinical and morphological manifestations, propranolol efficacy, and safety

Abstract

Introduction: PHACE syndrome is defined by infantile hemangiomas associated with a spectrum of malformations. These abnormalities involve posterior fossa of the brain, cerebral vasculature, heart or aorta, eyes, and midline thorax or sternum.

Case reports: Six cases of PHACE syndrome were diagnosed between 2002 and 2011 in the Department of Dermatology at Besançon Hospital. All patients were female and had an infantile hemangioma of the face over 5 cm in size. Five of them had encephalic abnormalities, and arterial malformations were found in three patients. Only one patient showed an ocular abnormality. None of them presented any cardiac, aortic, or sternal malformations. Two patients benefited from treatment with propranolol with good effectiveness and safety.

Discussion: The presence of an infantile hemangioma over 5 cm in size on the face should be a suspected sign for PHACE syndrome and requires the completion of a systematic evaluation. Diagnosis is based on recently revised criteria and demonstrates the large polymorphism of the malformations that may be encountered.

Conclusion: This descriptive series is in accordance with literature data including female preponderance and the frequent involvement of the posterior fossa. It also underlines the effectiveness of propranolol for this indication.