The acronym PHACES refers to the association of a large segmented hemangioma,usually on the face or neck, in combination with one or more of the anomalies of the brain, heart or eye.
P-Posterior fossa malformations and other structural brain defects
H-Hemangioma
A-Arterial (cerebrovascular) anomalies
C-Cardiovascular anomalies
E-Eye anomalies
S-Sternal cleft defects
PHACE Syndrome was first reported by Dr.Ilona Frieden in 1996. PHACE often presents in the first few weeks of life through a facial hemangioma. PHACE can be diagnosed by imaging of the head, neck and chest. The imaging is usually performed through the form of MRI, MRA, sonography and ultrasound.
Children with PHACE Syndrome will have to be assessed by a number of specialists including dermatologist, ophthalmologist, cardiologist and neurologist. Each child diagnosed with PHACE Syndrome may have different medical issues. Some are mild and some are much more severe.
PHACE was once thought to be rare,but now it is thought as being uncommon with many cases going unrecognised.
(Information sourced through NOVA)
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