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PHACE syndrome – clinical features, aetiology and management
Author(s) -
Winter Pieta R.,
Itinteang Tinte,
Leadbitter Phillip,
Tan Swee T.
Publication year - 2016
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.13242
Subject(s) - medicine , etiology , propranolol , mesoderm , pediatrics , pathology , embryonic stem cell , genetics , gene , biology
PHACE syndrome comprises a spectrum of anomalies including p osterior fossa malformations, h aemangioma, a rterial anomalies, c ardiac defects and e ye 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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