PHACE is a neurocutaneous syndrome and an acronym that
stands for: Posterior Fossa Brain Malformations,
Hemangiomas of the Face, Arterial Anomalies,
Cardiac anomalies, and Eye Abnormalities. The addition of an S
to the PHACE Syndrome becomes PHACES Association and refers to the
association of ventral developmental defects, such as Sternal
clefting or Supraumbilical raphe.
Rare; 120 cases described up to 2001. It has been
suggested that the disorder may be X-linked with lethality in males.
Unknown, but 87% of patients are female.
Unknown; possibly a developmental error between
the sixth and eighth week of gestation.
This syndrome should be considered in any infant
presenting with a large, segmental, plaque-type facial hemangioma; careful
cardiac, neurologic, and ocular examination is mandatory.
Seventy percent of patients have only one
extracutaneous manifestation of the syndrome. Hemangioma: facial, usually unilateral,
with a “plaque” morphology, most commonly involving the V1 trigeminal
dermatome. Extracutaneous hemangiomas: occur in 22% of patients; the subglottic area is then the
most common location. Brain and cerebrovascular abnormalities: Dandy-Walker malformation occurs in 33% of
patients; hypoplasia or agenesis of cerebellum or cerebellar vermis.
Aneurysmal dilatations and anomalous branches of the carotid artery occur in
50% of patients; arteriovenous or angiomatous malformations of the
cerebral vessels. Neurologic sequelae (seizures, developmental delay,
cerebral infarction, hemiparesis) are frequent if those anomalies are
present. Cardiac and/or aortic abnormalities: occur in more than 33% of patients; coarctation of the aorta is
the most frequent; patent ductus arteriosus, atrial septal defect,
ventricular septal defect. Aberrant origin of subclavian artery,
malformations of the aortic arch. Ophthalmic abnormalities: These are ipsilateral to the facial
hemangioma; increased retinal vascularity, Horner syndrome, microphthalmia,
Careful cardiac, neurologic, and
ocular examination to evaluate possible associated anomalies. In case of
stridor, the presence of a subglottic hemangioma should be suspected. These
children often receive steroid therapy to try reducing the size of the
The anesthetic strategy should be
adapted to the extracutaneous manifestations of the syndrome, especially the
cerebral, cerebrovascular, and cardiac manifestations.
Steroid coverage in case of steroid
PHACE syndrome is the same
spectrum of anomalies as are associated with ventral development defects
such as partial or complete sternal clefting or supraumbilical raphe.
Sturge-Weber Syndrome: Characterized by the association
of three major manifestations: leptomeningeal angiomas often combined with
calcium accumulation in the brain, seizures, and unilateral facial nevus
flammeus. Angiomas similar to those found in the brain can develop inside
the eye, often with secondary glaucoma.
Metry DW, Dowd CF, Barkovich AJ, et al: The many faces of PHACE. J Pediatr