"PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:"
"The pathogenesis of PHACE syndrome is unknown, and the condition is thought to be sporadic in aetiology 9,10. While it has been widely hypothesised that PHACE syndrome may have a genetic aetiology through somatic mutation(s) in early embryogenesis, no such mutations have been identified 9,10. No familial cases have been described 11."
"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."
"PHACE syndrome is nine times more common in females 9."
"Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental haemangioma or haemangioma >5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5."
"anomaly of major cerebral / cervical arteries (ICA, ACA, MCA, PCA, vertebral, basilar)"
"anomaly of major cerebral / cervical arteries (ICA, ACA, MCA, PCA, vertebral, basilar)"
"The pathogenesis of PHACE syndrome is unknown, and the condition is thought to be sporadic in aetiology 9,10. While it has been widely hypothesised that PHACE syndrome may have a genetic aetiology through somatic mutation(s) in early embryogenesis, no such mutations have been identified 9,10. No familial cases have been described 11."
"The pathogenesis of PHACE syndrome is unknown, and the condition is thought to be sporadic in aetiology 9,10. While it has been widely hypothesised that PHACE syndrome may have a genetic aetiology 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 haemangiomas 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."
"P: posterior fossa malformations (e.g. Dandy-Walker malformation)"
"H: haemangiomas"
"A: arterial anomalies"
"E: eye (ocular) anomalies"
"Initially, this syndrome was described as an association of large cutaneous haemangiomas 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."
"Initially, this syndrome was described as an association of large cutaneous haemangiomas 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."
Expected headings
"Historic and etymology"
"P: posterior fossa malformations (e.g. Dandy-Walker malformation)"