PHACE syndrome--clinical features, aetiology and management

Pieta R Winter; Tinte Itinteang; Phillip Leadbitter; Swee T Tan

doi:10.1111/apa.13242

PHACE syndrome--clinical features, aetiology and management

Acta Paediatr. 2016 Feb;105(2):145-53. doi: 10.1111/apa.13242. Epub 2015 Nov 27.

Authors

Pieta R Winter¹, Tinte Itinteang¹, Phillip Leadbitter^{1

2

3}, Swee T Tan^{1

2}

Affiliations

¹ Gillies McIndoe Research Institute, Wellington, New Zealand.
² Centre for the Study & Treatment of Vascular Birthmarks, Wellington Regional Plastic, Maxillofacial & Burns Unit, Wellington, New Zealand.
³ Department of Paediatrics, Hutt Hospital, Wellington, New Zealand.

PMID: 26469095
DOI: 10.1111/apa.13242

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Adrenergic beta-Antagonists / therapeutic use
Aortic Coarctation* / drug therapy
Aortic Coarctation* / embryology
Eye Abnormalities* / drug therapy
Eye Abnormalities* / embryology
Female
Humans
Infant
Neurocutaneous Syndromes* / drug therapy
Neurocutaneous Syndromes* / embryology

Substances

Adrenergic beta-Antagonists

Supplementary concepts

PHACE association