What is PHACE Syndrome?

Infantile hemangioma, a harmless but common tumor in babies, tends to show up between 4% to 5% of the infants. Large facial hemangioma is often linked to PHACES syndrome. To break that down, PHACES stands for issues related to the brain’s Posterior fossa, facial Hemangioma (a type of skin growth), Arterial anomalies (problems with the arteries), Cardiac anomalies (heart defects), Eye anomalies, and Sternal or abdominal anomalies (like clefts or defects in the chest or tummy region).

PHACES syndrome was first brought to light in 1996 by Frieden and his team, initially named PHACE syndrome. The term was later changed to PHACES syndrome when Boulinguez and colleagues added the ‘S’ for sternal defects or problems with the chest bone structure.

This syndrome is considered rare and only shows up in about 2% of infants with cervicofacial hemangioma, which means a hemangioma around the neck or face. It’s known as a neurocutaneous syndrome, which means it affects the nerves and skin, and can be identified by skin growths that are usually located on the face, neck, and scalp. These growths can either be only one or multiple. PHACES syndrome doesn’t just affect the skin; it can also lead to issues related to the heart, brain, and eyes. Among these, the most common problems are related to the structure of brain, the circulation of blood in the brain, and the cardiovascular system, which includes the heart and blood vessels.

What Causes PHACE Syndrome?

PHACE syndrome is believed to be a condition that isn’t passed on from parent to child. The exact cause still isn’t fully known. Most of the time, it appears without any clear reason, but there are thoughts that it might be related to a change in certain genes linked to the X chromosome. This is suggested because it’s more commonly found in females, while male fetuses with the condition often do not survive pregnancy.

PHACE syndrome comes with various genetic and body-related irregularities. Some experts believe it might be due to an issue that occurs between 6 and 8 weeks of pregnancy, before or during the time when blood vessels are first formed.

Risk Factors and Frequency for PHACE Syndrome

PS, or PHACE Syndrome, is more common among the Caucasian and Hispanic populations. It usually affects females more than males, with a ratio of 9 females for every male. About 20% of children with facial hemangioma, a type of skin growth, could develop PS. The likelihood of additional abnormalities, not just on the skin, increases as the hemangioma gets larger or affects multiple parts of the face.

PS is more common among Caucasian and Hispanic populations.
It’s more prevalent in females, with a ratio of 9 females to 1 male.
About 20% of children with a facial hemangioma could develop PS.
The risk of issues beyond the skin increases with the size of the hemangioma and if it affects multiple parts of the face.

Signs and Symptoms of PHACE Syndrome

PHACE syndrome is a disorder that affects the skin and nervous system. This condition often begins with a skin problem called a hemangioma, which may be present at birth or develop shortly after. Hemangiomas are usually red-blue soft masses that can spread across a large area of the skin, often on the head or neck. They can also appear as groups of small bumps or flat, red areas. Hemangiomas typically grow rapidly for a time and then slowly fade away.

Large red-blue soft masses or small bumps on the skin
Appearing on the head or neck
Typically grow rapidly and then slowly fade

The face can be divided into four sections: the frontotemporal (forehead and temple), maxillary (upper jaw), mandibular (lower jaw), and frontonasal (bridge of the nose and forehead). Hemangiomas on the forehead and bridge of the nose are often associated with higher risks of problems with the eyes, blood vessels in the brain, and the brain itself, while those on the lower jaw have been linked with possible heart defects and abnormalities in the middle of the face.

Aside from the skin abnormalities, PHACE syndrome can cause problems in other areas of the body. This includes the brain, blood vessels in the brain, the main body artery (the aorta), the eyes, and the chest wall. These issues are quite common, with blood vessel abnormalities in the brain found in 91% of cases, heart problems in 67% of cases, and brain abnormalities in 52% of cases. The most common heart abnormalities are an abnormally located main artery and narrowing of the aorta, which occur in about 20% of cases. Brain abnormalities can include underdevelopment of parts of the brain and nervous tissue-related birth defects. Additionally, symptoms can vary depending on the affected artery. Eye problems can also occur, including small eyes, glaucoma, and irregularities in parts of the eye.

Testing for PHACE Syndrome

If your baby has a large birthmark or skin growth (discolored area over 5cm in size) on the neck or face, this could be a sign of PHACE syndrome. PHACE syndrome is a complex condition that can affect different parts of the body. Therefore, your doctor will need to thoroughly examine your baby’s health history and perform a physical examination.

If the doctor suspects PHACE syndrome, they may order some scans, notably Magnetic Resonance Imaging (MRI) or Magnetic Resonance Angiography (MRA) for the head and neck. These tests give detailed pictures of the inside of your baby’s body that can help the doctor identify the potential issues associated with PHACE syndrome. Your child will also need an eye exam to check for abnormalities, and an echocardiogram, which is an ultrasound of the heart, to look for heart and aorta problems.

Suspecting PHACE syndrome during a pregnancy is also possible. Prenatal ultrasounds can detect the specific brain abnormalities associated with PHACE syndrome, so an MRI is generally recommended to confirm the diagnosis while the baby is still in the womb. The doctor may also suggest additional hormonal tests (endocrinologic workup), depending on the symptoms shown.

A team of specialists developed guidelines in 2009 and updated them in 2016 to diagnose PHACE syndrome. According to these guidelines, a “definite” diagnosis of PHACE syndrome is based on the presence of a large birthmark on the face plus one major sign or two minor signs related to other body parts.

Major signs include problems with major brain or neck arteries, brain structure abnormalities, heart problems, eye abnormalities, or defects in the middle part of the body. Minor signs could include cerebral artery aneurysms, certain brain structural issues, heart malformations, front eye segment anomalies, or conditions related to the pituitary gland, thyroid, or middle body part.

Remember, only a healthcare professional can diagnose PHACE syndrome. If you suspect anything, it’s crucial to consult with your doctor to get the right diagnosis and treatment.

Treatment Options for PHACE Syndrome

The treatment approach for children affected by this condition should involve a team of healthcare professionals from varying disciplines. Since no standard protocol exists, treatment plans are typically tailored to address the specific symptoms exhibited by each patient. Depending upon the different symptoms (extracutaneous manifestations) a child with PS has, they might need to be taken care of by heart doctors (cardiologists) or brain and nerve specialists (neurologists).

The hemangioma, a kind of blood vessel growth usually seen in PS, can often be treated successfully with a medication called propranolol. This has to be done carefully as there’s a risk of stroke in patients with heart or blood vessel issues. Other possible treatments for hemangiomas might involve systemic steroids (medications that reduce inflammation and suppress the immune system), surgery, or laser therapy (high-intensity light used to shrink or get rid of the hemangiomas).

Therapy with a medication called aspirin is usually recommended to prevent conditions caused by blood clotting (ischemic events). Heart and blood vessel issues may need early surgical intervention.

There are several medical conditions that could potentially be looked into, which include:

Sturge-Weber syndrome
Infantile hemangioma
Visceral hemangioma
Wyburn-Mason syndrome
LUMBAR syndrome

What to expect with PHACE Syndrome

The outcome can vary greatly and is largely dependent on the related symptoms. Problems related to the brain and thinking abilities are quite common and are the primary causes of serious health issues and discomfort.

Possible Complications When Diagnosed with PHACE Syndrome

Hemangioma: This might lead to sores, bleeding, vision problems, and issues with important body functions.
Cardiovascular: The narrowing of the aorta, known as coarctation, is the most common concern (14.5% of cases), along with other abnormalities in the aortic arch.
Neurological: Some possible issues include migraines, developmental delays, seizures, speech delays, and in rare instances, stroke or bleeding in the brain.
Ophthalmological: Risks include eye conditions like cataracts and glaucoma.
Occasional complications: These might include underdeveloped teeth, hearing problems, and issues with the body’s hormones like hypopituitarism (when the pituitary gland doesn’t produce enough of certain hormones) and hypothyroidism (low thyroid function).

Preventing PHACE Syndrome

PHACE syndrome is a rare condition that can affect the nerves and skin. It can cause abnormalities, or unusual features, in different parts of the body. It can also lead to challenging emotional and social issues for not just the patient but, also the entire family. That’s why, emotional and social support is necessary for the entire household. Kids dealing with this condition may experience issues like delayed speech, difficulty swallowing, and migraine headaches. As such, regular check-ups are critically important to catch any language difficulties early and to avoid other health problems.