PHACE syndrome

Dr Donna D'Souza et al.

PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:

When sternal clefting and/or supraumbilical raphe are also present it is termed PHACES syndrome.

Clinical presentation

Clinical diagnosis of PHACE 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:
  • Ventral or midline: sternal defects or supraumbilical raphe

Minor criteria:

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 term PHACE was coined by Ilona Frieden 2.

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Article information

rID: 1810
Synonyms or Alternate Spellings:
  • PHACES syndrome
  • PHACE association
  • Cutaneous haemangioma–vascular complex syndrome
  • Pascual-Castroviejo type II syndrome

Cases and figures

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    Coronal T2
    Case 1: posterior fossa anomaly
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    TOF angiogram
    Case 1: absent right ICA
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