OVERVIEW

PHACE Syndrome - Overview

 

PHACE Syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. It is an acronym that stands for the medical names of the parts of the body it often impacts:

 
 
 
 
 
 
 

Posterior fossa abnormalities and other structural brain abnormalities.

 

 

Hemangioma(s) that are typically large and located on the skin of the head and neck area.

 

 

Arterial anomalies of the head (brain) and neck.  These can be arteries that are too narrow (stenotic) or dilated (aneurysmal) or the lack of normal blood vessels in the head and neck.

 

 

Cardiac defects, with the most common being coartation (narrowing) or the aorta or other aortic abnormities

 

 

Eye anomalies not caused by the growth of the hemangioma such as problems with the optic nerve

 

Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe."

 

Some children can have hearing problems and endocrine problems such as thyroid anomalies for problems with growth hormone.

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Official Care Guidelines

 

Click here to download the latest version of the official Care Guidelines for PHACE Syndrome. It was constructed by members of PHACE Syndrome Community's Medical Advisory Board and serves as the most up-to-date guide for how to best treat children with this syndrome.

PHACE - the syndrome's origins

 

The term PHACE was first coined by Dr. Ilona Freidan in 1996, to describe the association of these anomalies, making it a relatively new and often unheard of syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head/neck and chest, an eye examination and a cardiac echo. PHACE is most commonly diagnosed among female infants. Long-term quality of life varies, with some children being mildly affected and others having more severe findings.

 

In addition to the obvious visual characteristic (the hemangioma), children with PHACE Syndrome sometimes suffer from strokes and seizures – which are generally at their worst when the hemangioma is in its growth phase.

 

Migraine headaches and developmental delays may occur in some children.

 

The growth phase of the hemangioma can last anywhere from six to 18 months. Then involution, or healing, of the hemangioma begins. There are treatments to help control the growth of the hemangioma including medications such as the beta blocker propranolol, laser therapy and other surgeries that are able to make a positive impact on appearance. However, treatment needs to be individualized. After the hemangioma recedes, any damage it or the other defects caused may remain.

 

Signs and Symptoms of PHACE Syndrome

 

Hemangiomas associated with PHACE Syndrome are usually less noticeable or not visible at birth, but are easier to see during the first days to weeks of life. They can grow quite fast. Hemangiomas linked with PHACE Syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.

 

 

Cause of PHACE Syndrome

 

There has been a great deal of research to understand the cause of PHACE Syndrome.  The abnormalities associated with this syndrome are thought to be due to errors that occur very early during development. Unfortunately, why the errors occur, or the exact cause is still unknown.  PHACE has a shared biology of other vascular anomalies.  There may be a genetic component involved and studies are underway to investigate this idea. No familial cases have been identified to date. Research is ongoing to find the cause of all vascular anomalies including PHACE Syndrome. To contribute to that research, please consider making a donation.

 

 

Diagnosis of PHACE Syndrome

 

If the medical history and the actual exam of the hemangioma look typical for PHACE Syndrome, more tests are ordered to confirm the diagnosis. These tests may include:

   • Ultrasound

   • Magnetic resonance imaging (MRI)

   • Magnetic resonance angiography of the brain (MRA)

   • Echocardiogram of the heart

   • Eye exam by an eye doctor

    • Other tests may be needed for diagnosis and treatment

 

 

Possible Complications of PHACE Syndrome

 

As the hemangioma(s) grow, the skin surface of the hemangioma can break down (ulceration), distort facial features or get in the way of other vital functions, such as breathing, vision, and hearing. Other complications will depend on what other structures are involved. These could include cardiac problems, developmental delay, seizures, headaches, and abnormal muscle tone if the brain is involved.

 

 

Treatment for PHACE Syndrome

Treatment of PHACE syndrome is individualized and will depend upon a variety of factors including the organs that are affected. The hemangioma(s) may require medical therapy to control the growth. The child may need other therapies, depending on what other organs or structures are involved. Please see the section above for the official Care Guidelines.

 

 

Management of PHACE Syndrome

PHACE syndrome needs to be managed by a multidisciplinary team of experts familiar with the treatment of hemangiomas and special considerations that arise when a child has PHACE. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved.

 

This team of experts needs to follow the infant initially to manage acute issues and complications but it is very important for this same team to follow the patient long term to evaluate development and any long term issues, pay close attention to how these children develop throughout the school age period.

 

Excerpts from:

http://www.cincinnatichildrens.org/health/p/phace

http://www.novanews.org/information/phace-syndrome

 

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