PHACE syndrome
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PHACE
syndrome • PHACE syndrome - Ganzer Fall bei Radiopaedia
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PHACE
syndrome • PHACE syndrome - Ganzer Fall bei Radiopaedia
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.
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 .
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:
Historic and etymology
Initially, this syndrome was described as an association of largecutaneous hemangiomas of the head and anomalies of the cerebralvasculature by Pascual-Castroviejo in 1978 . Subsequently, the name PHACE syndrome was coined by Ilona Frieden et al .
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