PHACE syndrome, also known as cutaneous hemangioma–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: hemangiomas
- 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 hemangioma or hemangioma >5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5.
Major criteria:
- cerebrovascular:
- anomaly of major cerebral arteries
- dysplasia of the large cerebral arteries
- 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
- persistent trigeminal artery
- saccular aneurysms of any cerebral arteries
- brain: posterior fossa anomalies
- ocular: posterior segment anomalies
- persistent fetal vasculature
- retinal vascular anomalies
- morning glory disc anomaly
- optic nerve hypoplasia
- peripapillary staphyloma
- coloboma
- cardiovascular:
- aortic arch anomaly
- aberrant course or origin of supra-aortic arteries
- ventral or midline: sternal defects or supraumbilical raphe
Minor criteria:
- cerebrovascular: persistent embryonic artery (carotid-vertebrobasilar anastomosis) other than trigeminal artery
- brain:
- extra-axial intracranial hemangioma
- midline anomaly
- neuronal migration disorder
- ocular: anterior segment anomalies
- sclerocornea
- cataract
- coloboma
- microphthalmia
- cardiovascular:
- ventral or midline:
Pathology
The pathogenesis of PHACE syndrome is unknown, and the condition is thought to be sporadic in etiology 9,10. While it has been widely hypothesized that PHACE syndrome may have a genetic etiology 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 hemangiomas 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.