PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:
P: posterior fossa malformations (e.g. Dandy-Walker malformation)
H: haemangiomas
A: arterial anomalies
C: coarctation of the aorta and cardiac anomalies
E: eye (ocular) anomalies
When sternal clefting and/or supraumbilical raphe are also present it is termed PHACES syndrome.
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Epidemiology
PHACE syndrome is nine times more common in females 9.
Clinical presentation
Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental haemangioma or haemangioma >5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5.
Major criteria anomalies:
-
arterial:
anomaly of major cerebral / cervical arteries (ICA, ACA, MCA, PCA, vertebral, basilar)
dysplasia of the large cerebral arteries (tortuosity, kinking, dolichoectasia)
arterial stenosis or occlusion with or without moyamoya collaterals
absence or moderate-severe hypoplasia of the large cerebral arteries
aberrant origin or course of the large cerebral arteries (except common aortic arch variants such as bovine aortic arch)
persistent carotid-vertebrobasilar anastomosis (persistent trigeminal, hypoglossal, proatlantal, or otic)
-
structural brain:
posterior fossa anomalies
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ocular:
posterior segment anomalies
persistent hyperplastic primary vitreous
persistent fetal vasculature
retinal vascular anomalies
peripapillary staphyloma
-
cardiovascular:
aortic arch anomalies (except common variants such as bovine arch)
aortic coarctation
aberrant origin of subclavian artery
aortic aneurysm
-
ventral or midline:
sternal defects or supraumbilical raphe
Minor criteria:
-
arterial:
-
structural brain:
midline anomalies
cortical malformations
-
ocular:
anterior segment anomalies
sclerocornea
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cardiovascular:
systemic venous anomalies
-
ventral or midline:
sternal papule/hamartoma
Pathology
The pathogenesis of PHACE syndrome is unknown, and the condition is thought to be sporadic in aetiology 9,10. While it has been widely hypothesised that PHACE syndrome may have a genetic aetiology through somatic mutation(s) in early embryogenesis, no such mutations have been identified 9,10. No familial cases have been described 11.
Historic and etymology
Initially, this syndrome was described as an association of large cutaneous haemangiomas of the head and anomalies of the cerebral vasculature by Pascual-Castroviejo in 1978 7,8. Subsequently, the name PHACE syndrome was coined by Ilona Frieden et al 2.