PHACE syndrome is an association between large infantile hemangiomas of the face, head and / or neck and developmental defects of the eyes, heart, major arteries and brain.
What is PHACE Syndrome?
P : Posterior fossa (This refers to possible abnormal structures in the brain, particularly the cerebellum.)
H : Hemangioma
A : Arterial (This refers to possible abnormal arteries in the brain, neck or chest.)
C : Cardiac (This refers to possible heart defects or abnormalities of the large blood vessels connected to the heart.)
E : Eyes (This refers to possible eye or vision issues.)
Causes of PHACE Syndrome
No one has yet discovered the cause of PHACE, though researchers are studying the condition to understand its origins. PHACE does not appear to run in families, and the condition appears more frequently in girls than in boys.
Symptoms of PHACE Syndrome
Hemangiomas may be small or not visible at birth.
They grow quickly and can be seen during the first days to weeks of life.
In children with PHACE syndrome, hemangiomas usually cover a large area of the face, head or neck.
They can appear as one lesion or a patch of multiple lesions.
Other problems may be visible at birth such as breastbone deformity.
Rarely children with large hemangiomas of arm and upper trunk may also have PHACE syndrome.
Diagnosis of PHACE Syndrome
Magnetic resonance imaging (MRI)
Magnetic resonance angiography of the brain (MRA)
Echocardiogram (echo) or electrocardiogram (EKG) of the heart
Eye exam by an ophthalmologist (eye doctor)
Treatment of PHACE Syndrome
Usually the hemangioma(s) in PHACE syndrome require medication by mouth or on the skin.
These medications are used to stop hemangioma growth.
They also treat and / or prevent complications. Surgical treatments could also be needed.
Our Vascular Anomalies Center brings together specialists from across the hospital to take a coordinated approach in caring for children with PHACE. Depending on an individual child’s needs, this could include:
Dermatologists and plastic surgeons to monitor and, if necessary, treat a hemangioma
Cardiologists and cardiovascular surgeons to manage congenital heart defects
Cerebrovascular surgeons and neurointerventional radiologists to address blood vessel anomalies in the brain
Endocrinologists to monitor and care for endocrine problems
Neurologists and neurosurgeons to care for brain abnormalities
Ophthalmologists to treat eye anomalies
Orthopedic surgeons to repair defects in the sternum