PHACE syndrome

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.

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:

Minor criteria:

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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