The following is a list of FAQs and answers, to the best of this group's abilities. The official source of information is the "PHACE Syndrome Handbook: A Guide for Parents and Physicians" - Editors: Yvonne Chiu, MD, Beth Drolet, MD, Marcia Seefeldt, RN, Dawn Siegel, MD.
Please note, it's often helpful to connect with other families facing PHACE Syndrome, and we have a private Facebook group specifically for individuals and their primary caregiver(s). We also have a public Facebook group for extended family and friends.
Below is a list of questions. Click on a question to be directed to its answer:
What is PHACE Syndrome?
A syndrome is defined as a recognizable pattern of medical conditions that occur together. PHACE Syndrome is a disorder characterized by large infantile hemangiomas of the face, scalp and neck associated with developmental defects of the brain, blood vessels, eyes, heart and chest wall. The term PHACE was coined, as the first letters of the words refer to: Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/Coarctation of the aorta, and Eye anomalies.
How common is PHACE Syndrome?
Although relatively uncommon, more than 400 cases of PHACE syndrome have been reported in the medical literature. This number, however, is most likely an underrepresentation of the true number of PHACE Syndrome cases due to a variety of reasons. First, the reported cases found in the literature often have the most severe abnormalities associated with PHACE Syndrome. Thus, children who have a more mild form of PHACE Syndrome may not be reported in medical journals. Second, some children that were previously misdiagnosed with other diseases, most notably Sturge-Weber Syndrome, may actually have PHACE Syndrome. As understanding and recognition of PHACE Syndrome increases, the reported number of patients diagnosed with the syndrome is expected to increase.
What causes PHACE Syndrome?
There has been a great deal of research done 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.
How is PHACE Syndrome diagnosed?
The identification of PHACE Syndrome is made by a clinical diagnosis, as there is no one sign or symptom that will indicate a diagnosis of PHACE syndrome. Currently, there is no blood test or genetic test for PHACE syndrome. Physicians use a combination of signs and symptoms called diagnostic criteria to make the diagnosis. Most children with PHACE syndrome have a large hemangioma on the face, scalp or neck. One study found that 31 percent of children with large infantile hemangiomas on the face or scalp have PHACE syndrome. Rarely, children with large hemangiomas of the arm and/or trunk may also have PHACE syndrome. Children with a large segmental hemangioma of the head and neck should undergo a thorough evaluation, especially of the brain, heart, blood vessels and eyes. If a child is at risk for PHACE syndrome, certain tests and examinations should be considered.
What tests should be performed to determine if a child has PHACE Syndrome?
A history and physical examination is a comprehensive evaluation of the patient by a physician. During this examination the physician gathers information about the infant's past medical problems, problems experienced during the pregnancy, and an overview of medical conditions that may or may not run in the family. Additionally, the physician will perform a physical examination of the infant. The information gathered will help to guide future consultations and examinations as well as treatment planning.
An ophthalmic (eye) exam is performed by an ophthalmologist (eye doctor) to check vision and the health of the eyes. During this examination the ophthalmologist may check eye movements, reaction to light, and use an ophthalmoscope to check the deep and surface anatomy of the eye.
An echocardiogram (echo) is an ultrasound test that uses sound waves to create a moving picture of the heart and large blood vessels arising from the heart. This test is similar to the sonogram or ultrasound used to observe a baby while pregnant. This picture is much more detailed than an X-ray image and involves no radiation exposure. An echocardiogram allows doctors to diagnose, evaluate, and monitor the heart and aortic abnormalities associated with PHACE Syndrome.
A magnetic resonance imaging (MRI) and magnetic resonance angiogram (MRA) of the head and neck should be ordered if PHACE Syndrome is suspected. These tests can provide important information needed to diagnose certain conditions associated with PHACE syndrome such as abnormal arterial blood vessels and abnormalities of the brain. Both MRI and MRA use a magnetic field and a computer to provide a detailed image of the body and internal organs. An MRI of the brain provides detailed pictures that allow doctors to look for findings of PHACE syndrome. An MRA of the head, neck, and chest provides detailed pictures of the arterial blood vessels through the use of a contrast agent. An intravenous (IV) line needs to be inserted so that the contrast material can be injected into the bloodstream. The same machine is used for both an MRI and an MRA and in most cases these tests are done at the same time. There is no radiation exposure during an MRI or MRA. Because slight movements may interfere with the quality of the images, infants and young children may need to be sedated so they do not move.
Occasionally, a computed tomography angiogram (CTA) may be used to look at blood vessels of the brain, neck, and chest. This is a special type of CT scan that uses intravenous (IV) dye to highlight the body's blood vessels. Because a CTA requires exposing patients to radiation, MRA is almost always preferred for the evaluation of the arteries. Properly performed MRI, MRA and occasionally CTA are essential to establish the diagnosis of PHACE syndrome.
What is the history of PHACE Syndrome?
PHACE syndrome is a relatively newly discovered syndrome and was first described in 1996 by an astute physician who recognized a pattern of problems in babies with large facial hemangiomas. Dr. Ilona Frieden and her colleagues published a medical paper detailing five babies with large facial hemangiomas and anomalies of the brain, aortic arch, eye and arteries. Dr. Frieden coined the term PHACE, which is an acronym formed by the first letter in the name of the affected areas. A physician in Spain also noted a similar constellation of findings (Pascual Castroviejo type II syndrome). In that same paper, Dr. Frieden also reviewed previously published papers that described similar conditions. It is believed that many children had PHACE syndrome in the past but were unrecognized or were misdiagnosed with another syndrome. Even though it has been recognized for almost 15 years, in medical terms, this is still considered a very new syndrome and we have much more to learn.