PHACE Syndrome

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.

PHACES Association.

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, cataracts.

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 facial hemangioma.

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 therapy.

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.