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PHACE syndrome--clinical features, aetiology and management
Pieta R Winter1, Tinte Itinteang1, Phillip Leadbitter1,2,3
1Gillies McIndoe Research Institute, Wellington, New Zealand.
Unlabelled:
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.
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