PHACE syndrome

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. When these occur together, doctors can diagnosis PHACE syndrome.

PHACE defined:

  • Posterior fossa –These are brain malformations that are present at birth.
  • 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 – 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:

PHACE 1  PHACE 2 

How is the diagnosis of PHACE syndrome made?

We recommend 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 team of specialists. 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 vision development 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 in pain.
More serious complications may develop depending on the other problems 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.

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 vision loss.

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

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.

Eye abnormalities 
Posterior segment abnormalities Microphthalmos
Retinal vascular abnormality Congenital cataracts
Persistent fetal retinal vessels Sclerocornea
Iris vessel hypertrophy Iris hypoplasia
"Morning-glory" disc   Exophthalmus
Peripapillary staphyloma   Congenital third nerve palsy  
Optic nerve hypoplasia Horner syndrome 
Anterior segment abnormalities   
Other associated anomalies 
Ventral developmental Miscellaneous
Partial or complete agenesis of sternum Pituitary insufficiency
Sternal cleft or pit Micrognathia
Sternal papule   Aruricular hypoplasia or agenesis/"low-set" ears
Lingual ectopic thyroid Orofacial clefting  
Supraumbilical raphe Spina bifida occulta  
Omphalocele  Esophageal diverticulum
  Cervical cyst  
  Ipsilateral sensineural hearing loss