PHACE syndrome

Last revised by Rohit Sharma on 25 Aug 2022

PHACE syndrome, also known as cutaneous hemangioma–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.

PHACE syndrome is nine times more common in females 9.

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:

Minor criteria:

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.

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.

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Cases and figures

  • Case 1: posterior fossa anomaly
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  • Case 1: absent right ICA
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  • Case 2: left periorbital hemangioma, posterior fossa anomaly, hypoplasia of left ICA
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