PHACE syndrome--clinical features, aetiology and management

Abstract

PHACE syndrome comprises a spectrum of anomalies including posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye anomalies. PHACE should be considered in any patient with a large facial segmental infantile haemangioma (IH), and multidisciplinary management is crucial. Low-dose propranolol is effectively for the treatment of IH associated with PHACE syndrome. Recent evidence suggests IH is comprised of mesoderm-derived haemogenic endothelium.

Conclusion: The embryonic developmental anomaly nature of IH provides an insight into the origin of PHACE syndrome.

Keywords: Aetiology; Infantile haemangioma; PHACE syndrome; Renin-angiotensin system; β-blockers.