PHACE Syndrome

You can read more about PHACE Syndrome on the online version of our Handbook.

What is PHACE syndrome?
PHACE syndrome is the association of a large hemangioma usually on the face or neck, in combination with one or more other abnormalities. Every infant diagnosed with PHACE syndrome has different medical needs. Some have mild symptoms while other have more severe symptoms. PHACE syndrome is uncommon but may have been misdiagnosed in the past. It affects girls nine times more often than boys.

PHACE is an acronym that refers to a group of abnormal medical findings, and when these occur in combination, the diagnosis of PHACE syndrome is made.

PHACE defined:
Posterior fossa- These are brain malformations that are usually present at birth. These brain malformations do not form after the infant is born.

Hemangioma- The hemangioma usually covers a large area on the skin of the head or neck (greater than 5 cm). The term "segmental" is sometimes used to describe these hemangiomas.

Arterial lesions- The abnormalities of the blood vessels in the neck or head.

 

Cardiac abnormalities/aortic coarctation- These are abnormalities of the heart or the blood vessels that are attached to the heart.

 

Eye abnormalities.

  

What causes PHACE syndrome?
There has been a lot of progress in recognizing and understanding PHACE syndrome, but there is no known cause. Researchers at Children's Hospital of Wisconsin, The Medical College of Wisconsin and the Hemangioma Investigator Group have ongoing research studies. These groups recently have published criteria for diagnosis of PHACE syndrome so earlier detection may lead to earlier and safer treatments.

 

These are examples of hemangiomas that may be seen in infants with PHACE syndrome:

 

How is the diagnosis of PHACE syndrome made?
It is recommended that any infant with a large facial hemangioma be evaluated by a pediatric dermatologist, a pediatric ophthalmologist or a physician who is familiar with PHACE syndrome. If PHACE syndrome is suspected, special radiology tests may be needed. These tests may include an MRI or MRA of the head, neck and chest and an echocardiogram. If the tests are abnormal, the infant should be seen by a multidisciplinary vascular anomalies team. This includes the specialists who are needed to give the infant ongoing care. The pediatric specialists who may be needed to treat these infants include a dermatologist, hematologist/oncologist, ophthalmologist, radiologist, neurologist, geneticist, cardiologist and otolaryngologist who are all familiar with treating this syndrome.

What are the complications of PHACE syndrome?
The hemangiomas found in patients with PHACE syndrome are more likely to have complications. If the hemangioma is near the eye it may cause problems with development of the vision in that eye. The facial hemangioma on these infants is more likely to break open and bleed. When a hemangioma breaks open, it usually is very painful, and the infant needs prompt attention and often, pain medication. Fussiness, poor feeding and difficulty sleeping are all signs that the infant may be having pain.

More serious complications may develop depending on the other anomalies that are found in the infant.

Infants who have PHACE syndrome may be at risk for other neurological problems even after the hemangioma has gotten better. These problems may include migraine headaches, seizures, developmental delays, speech delays and very rarely ischemic strokes. These symptoms may be the result of structural defects or cerebrovascular events from the arterial defects.

Infants with cardiovascular defects need close monitoring by a pediatric cardiologist for ongoing care and treatment. The most common cardiac defects associated with PHACE syndrome are coarctation of the aorta or other aortic arch abnormalities. If severe, the coarctation may require surgery.

Infants need to have frequent visits with an ophthalmologist if there are signs of eye involvement. They may need early treatment to prevent loss of sight.

What is the treatment for PHACE syndrome?
The treatment for PHACE syndrome may vary for each infant. Treatment will depend on the severity of the disease and associated problems.

Medical findings associated with PHACE syndrome:

 

 

 Posterior fossa anomalies-brain structure

  • Dandy-Walker complex.
  • Cerebellar hypoplasia.
  • Subependymal or arachnoid cysts.
  • Hypoplasia of cerebrum.
  • Hypoplasia of corpus callosum.
  • Hypoplasia of septum pellucidum.
  • Hypoplasia of vermis.
  • Absent foramen lacerum.
  • Polymicrogyria.
  • Microcephaly.
  • Heterotopia.
  • Absent pituitary or partially empty sella turcica.

 

 

 Hemangioma

  • Face, neck or scalp hemangioma is present in more than 95 percent of patients.
  • Size is greater than 5 cm.
  • Segmental.

 

 

 Arterial lesions-cerebrovascular

  • Dysplasia of the large cerebral arteries.*
  • Stenosis, occlusion, absence or moderate to severe hypoplasia of the large cerebral arteries.*
  • Aberrant origin or course of the large cerebral arteries.*
  • Saccular aneurysms.
  • Persistent embryonic arteries.
  • Cerebral sinus malformations.
  • Sinus pericranii.
  • Dural arteriovenous malformations.
  • Moyamoya vasculopathy.
  • Acute arterial stroke.

*Internal carotid artery, middle cerebral artery, anterior cerebral artery, posterior cerebral artery or vertebrobasilar system.

 

Cardiac/aortic coarctation/cardiovas cular

  • Coarctation or interrupted aortic arch.
  • Aneurysms of aortic arch.
  • Right aortic arch.
  • Double aortic arch.
  • Congenital valvular aortic stenosis.
  • Aberrant origin of a subclavian with or without a vascular ring.
  • Subclavian steal syndrome.
  • Anomalous coronary arteries.
  • Patent ductus arteriosus.
  • Anomalous pulmonary veins.
  • Patent foramen ovale.
  • Cor triatriatum.
  • Tricuspid atresia/stenosis.
  • Dextrocardia.
  • Persistent left superior vena cava.
  • Ventral and atrial septal defects.
  • Pulmonary stenosis.
  • Tetralogy of Fallot.

 

Eye abnormalities

  • Posterior segment abnormalities.
  • Retinal vascular abnormality.
  • Persistent fetal retinal vessels.
  • Iris vessel hypertrophy.
  • "Morning-glory" disc.
  • Peripapillary staphyloma.
  • Optic nerve hypoplasia.
  • Anterior segment abnormalities.
  • Microphthalmos.
  • Coloboma.
  • Congenital cataracts.
  • Sclerocornea.
  • Iris hypoplasia.
  • Exophthalmus.
  • Congenital third nerve palsy.
  • Horner syndrome.

 

Other associated anomalies

Ventral developmental Miscellaneous
  • Partial or complete agenesis of sternum.
  • Sternal cleft or pit.
  • Sternal papule.
  • Lingual ectopic thyroid.
  • Supraumbilical raphe.
  • Omphalocele.
  • Pituitary insufficiency.
  • Micrognathia.
  • Aruricular hypoplasia or agenesis/"low-set" ears.
  • Orofacial clefting.
  • Spina bifida occulta.
  • Esophageal diverticulum.
  • Cervical cyst.
  • Ipsilateral sensineural hearing loss.

 

 

Research currently focusing on PHACE syndrome.