PHACE Syndrome

PHACE was recognized as a condition relatively recently. PHACE (sometimes also called PHACE association, PHACES syndrome, PHACES association or Pascual-Castroviejo type II syndrome) is an associated collection of disorders characterized by a large infantile hemangioma (benign tumor, presenting as a strawberry mark) on a child's face, scalp and neck, together with a combination of defects in the brain, blood vessels, eyes, heart, and chest.

The cause of PHACE is unknown, and the condition is uncommon. Its name is an acronym describing the collection of anomalies that together comprise the condition:

• Posterior fossa: congenital brain malformations, most commonly affecting the back of the brain, such as Dandy-Walker cysts
• Hemangioma: a benign vascular tumor or anomaly that, in children with PHACE, usually appears as a red birthmark on the face, scalp or neck
• Arterial lesions: abnormal arteries, usually in the head or neck
• Cardiac abnormalities or coarctation of the aorta: congenital defects in the heart and its major blood vessels
• Eye or Endocrine abnormalities

Some people also add an S to the end of the condition's name, referring to abnormalities in the sternum (the breastbone) seen in some children with PHACE.

Every child diagnosed with PHACE has a different combination of anomalies and symptoms. As such, the care of every child with PHACE is highly personalized and may require the expertise of clinicians and specialists from several medical fields.

The most common sign of PHACE is the presence of a large (greater than 5 centimeters wide) hemangioma — a benign vascular tumor — on a child's neck, face, or scalp.

Every child diagnosed with PHACE has a different combination of abnormalities and symptoms. For the purposes of developing a diagnosis in a child suspected of having PHACE, those abnormalities and symptoms are divided into two categories:

Major criteria: Symptoms or abnormalities that are common in PHACE but rarely seen in other medical conditions. Major criteria include, but are not limited to:

• Aortic arch anomalies such as coarctation of the aorta
• Anomalies (e.g., narrowing, abnormal growth, absence) in the major arteries of the head and brain (the cerebral arteries)
• Continued presence after birth of the trigeminal artery, an artery in the brain that is present during fetal development but which typically disappears before birth
• Anomalies of the cerebellum
• Aneurysms in the blood vessels of the brain or heart
• Abnormalities in the structures in the back of the eye (e.g., retina, fovea, optic nerve)
• Abnormalities in the blood vessels of the retina or other parts of the eye
• Defects in the sternum (breastbone), such as cleft sternum

Minor criteria: Symptoms or abnormalities that are seen in PHACE and often present in other medical conditions as well. Minor criteria include, but are not limited to:

• Ventral septal defects (gaps in the wall between the heart's left and right ventricles, or pumping chambers)
• Continued presence after birth of fetal arteries other than the trigeminal artery
• Pituitary gland or thyroid anomalies

Keep in mind that not every child with PHACE will have these abnormalities; most, in fact, will have only a small subset. A child's diagnosis of PHACE and subsequent treatment will be determined by her specific combination of signs and symptoms and their severity.

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.

Because of the combination of blood vessel and structural abnormalities, children with PHACE are at risk for a range of medical complications, such as:

• Stroke
• Seizure
• Delays in language, cognitive/intellectual, or motor development
• Difficulties in language or motor control
• Difficulties in maintaining balance
• Muscle weakness on one side of the body (hemiparesis) or decreased muscle tone (hypotonia)
• Body spasms (opisthotonus)
• Migraine headaches
• Cyclic vomiting syndrome

There is no single test that can determine whether or not a child has PHACE. Rather, doctors make a diagnosis of PHACE based on:

• Physical examination
• Medical history
• Eye exam
• Echocardiogram
• Magnetic resonance imaging (MRI) of the brain and magnetic resonance angiogram (MRA) of the head and neck

These tests may involve a number of clinicians from several different medical specialties (e.g., pediatric cardiology, pediatric ophthalmology, pediatric otolaryngology [an ear/nose/throat doctor], pediatric neurology, pediatric vascular anomalies, pediatric dermatology, pediatric neuroradiology).

Together, these tests look for signs of the major and minor criteria of PHACE. Depending on the combination of symptoms and abnormalities the tests reveal, a child may be diagnosed with:

• PHACE: A child is definitely diagnosed with PHACE if she has a large (greater than 5 centimeters wide) regional or segmental hemangioma on the neck, face, or scalp plus either one major or two minor criteria.
• Possible PHACE: A child is diagnosed with possible PHACE if she has:
  • A large (greater than 5 centimeters wide) segmental hemangioma on the neck, face, or scalp and one minor criterion OR
  • A hemangioma on her neck or upper torso plus either one major criterion or two minor criteria OR
  • Two major criteria without a hemangioma

The treatment of a child with PHACE will depend on the combination of criteria and their severity.

At Boston Children's, testing and diagnosis of children with PHACE is coordinated through the Vascular Anomalies Center.

The treatment of children with PHACE is highly personalized based on the severity of the condition and the problems associated with it. Because the condition can affect so many different parts of the body, children with PHACE often see clinicians and specialists from several medical fields.

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

Because PHACE as a diagnosis is still relatively new and can vary from child to child, no one yet knows what the long-term outlook is for children with PHACE.

The Vascular Anomalies Center's (VAC) interdisciplinary team of clinicians cares for children with PHACE syndrome who come to Boston Children's Hospital. The VAC's 25 physicians — representing 16 medical and surgical specialties — are experts in the field of vascular anomalies.

Specialists from multiple disciplines come together to care for every child seen at the VAC clinic. It's not uncommon for children on their first visit to the clinic to be evaluated by a whole team at the same time. From there, the team works with you to develop and carry out a comprehensive and coordinated care plan that matches your child's specific needs, bringing in the expertise of other Boston Children's departments and services as necessary to provide your child with the best care.

Please note that neither Boston Children's Hospital nor the Vascular Anomalies Center at Boston Children's unreservedly endorses all of the information found on the sites below. These links are provided as a resource:

• PHACE Syndrome Community
• PHACES Foundation of Canada