PHACE syndrome

PHACE

syndrome • PHACE syndrome - Ganzer Fall bei Radiopaedia

Dixon, A. PHACE syndrome. Case study, Radiopaedia.org. (accessed on 23 Oct 2022) https://doi.org/10.53347/rID-10431 • CC by-nc-sa 3.0 (modified)

PHACE

syndrome • PHACE syndrome - Ganzer Fall bei Radiopaedia

Haouimi, A. PHACE syndrome. Case study, Radiopaedia.org. (accessed on 23 Oct 2022) https://doi.org/10.53347/rID-64268 • CC by-nc-sa 3.0 (modified)

Radiopaedia • CC-by-nc-sa 3.0 • de

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
- Dandy-Walker complex
- cerebellar hypoplasia/dysplasia
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:
- ventricular septal defect
- right aortic arch
ventral or midline:
- hypopituitarism
- ectopic thyroid

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 .