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Check back daily during the week of Sunday, March 15 through Sunday, March 22 for new PHACE facts each day!
PHACE Fact #1
What is PHACE Syndrome?
A syndrome is defined as a recognizable pattern of medical conditions that occur together. PHACE Syndrome is a rare disorder characterized by a large infantile hemangioma of the face, scalp and neck associated with developmental defects of the brain, blood vessels, eyes, heart and chest wall.
PHACE Fact #2
PHACE Syndrome is an acronym that stands for the medical names of the parts of the body it often impacts:
P – Posterior fossa abnormalities and other structural brain abnormalities
H – Hemangioma(s) of the cervical facial region
A – Arterial cerebrovascular anomalies
C – Cardiac defects, aortic coarctation and other aortic abnormalities
E – Eye anomalies
PHACE Fact #3
How is the diagnosis of PHACE Syndrome made?
PHACE Syndrome is currently a clinical diagnosis. Physicians use a list of diagnostic criteria to assess the organ system anomalies present at birth. These anomalies can be categorized as Major or Minor criteria. Any infant with a large facial hemangioma should be evaluated by a pediatric dermatologist, a pediatric ophthalmologist and a physician who is familiar with PHACE Syndrome.
PHACE Fact #4
Diagnosing PHACE Syndrome:
Major Criteria vs. Minor Criteria
For a complete list of Major and Minor Criteria utilized when diagnosing PHACE syndrome visit the research page on our website and click on New Care Guidelines for people with PHACE.
PHACE Fact #5
Did you know? There are 2 types of PHACE diagnosis.
Type 1) Definite PHACE Syndrome:
Hemangioma >5 cm in diameter of the head including scalp PLUS 1 major criteria or 2 minor criteria - or -
Hemangioma of the neck, upper trunk or trunk and proximal upper extremity PLUS 2 major criteria.
Type 2) Possible PHACE Syndrome:
Hemangioma >5 cm in diameter of the head including scalp PLUS 1 minor criteria - or -
Hemangioma of the neck, upper trunk or trunk and proximal upper extremity PLUS 1 major or 2 minor - or -
No Hemangioma PLUS 2 major criteria.
PHACE Fact #6
P = Posterior fossa malformation
The P in PHACE Syndrome is a less common anomaly.
Those that are diagnosed with the P are more likely to have:
Posterior fossa brain anomalies
Other hypoplasia/dysplasia of the mid- and/or hind brain
Less likely aspects of the P in PHACE are:
Malformations of cortical development
Midline brain anomaly
Absent pituitary or partially empty sella turcica
PHACE Fact #7
C = Cardiac abnormalities
The C in PHACE Syndrome is a more common anomaly.
Those that are diagnosed with the C are more likely to have:
Anomalies of the Aorta – Coarctation or Dysplasia of the Aortic Arch
Aberrant origin of the subclavian artery
Less likely to have:
Right aortic arch (double aortic arch)
Interrupted aortic arch
Structural anomalies of the heart including Ventral Septal Defect
Systemic venous anomalies
Theses abnormalities are rarely seen:
Tetralogy of Fallot, ectopic cordis, pulmonary stenosis and atrial septal defect
PHACE Fact #8
The H in PHACE syndrome is the most common aspect, present in over 95% of patients diagnosed.
Typically, the hemangiomas that are seen in PHACE Syndrome cover a large area of the skin on the head or neck (greater than 5 cm).
The term segmental hemangioma has been used to describe the appearance of hemangiomas that are associated with PHACE. Segmental hemangiomas often extend over a broad area, rather than a focal point.
In newborns, segmental hemangiomas can be telangiectatic (broken blood vessel-like), or flat cherry-red patches (sometimes mistaken for a Port Wine birthmark).
PHACE Fact #9
Most hemangiomas associated with PHACE Syndrome will need some type of treatment either systemic or topical, typically during the course of its growth phase.
Treatment for the hemangioma has greatly improved in the past 10 years with the introduction of Propranalol.
Some hemangiomas, either treated or untreated, may still cause complications such as:
Impairment of visual axis
Stridor related to an airway (subglottic) hemangioma
Ulceration of the hemangioma
Very rarely - GI bleeding if a GI tract Hemangioma is present
PHACE Fact #10
A = Arterial Abnormalities of the head and neck
The A in PHACE Syndrome is a more common anomaly.
A cerebrovascular abnormality is an abnormal blood vessel of the brain. In the case of PHACE Syndrome, patients can have abnormalities of the arteries that carry blood to the brain either in the head (cerebral) or neck (cervical).
The arteries in the chest, neck, and brain are the most frequent arteries found to be abnormal in PHACE Syndrome. These blood vessels can have abnormal shapes, sizes, or paths through the neck and head.
The internal carotid artery is the most frequently involved abnormal artery. A recent study shows, anomalies of the internal carotid artery are present in about 75 percent of PHACE Syndrome patients who have cerebrovascular abnormalities (A). The abnormal artery is most often located on the same side as the facial hemangioma.
Most common abnormalities of the A are:
Dysplasia, narrowing, aberrant origin or course of cervical, cerebral, and brachiocephalic arteries
Less common abnormalities include:
Agenesis of cervical, cerebral, and brachiocephalic arteries
Aneurysms of cervical, cerebral or brachiocephalic arteries
Persistent carotid-vertebrobasilar anastomosis (proatlantal segmental, hypoglossal, otic, and/or trigeminal arteries)
Rarely seen abnormalities include:
Arteriovenous dural fistula/malformation
It is highly recommended that those diagnosed with the A in PHACE consult with a neurologist.
PHACE Fact #11
It has been estimated that greater than 80% of those diagnosed with PHACE syndrome have at least one abnormal artery (A) in their neck or head, and many have several abnormal arteries in this region.
Individuals diagnosed with PHACE Syndrome are at risk for migraine like headaches, seizures, and very rarely, ischemic stroke.
Children with PHACE Syndrome are at risk for speech/language, gross motor, fine motor and other developmental delays.
PHACE Fact #12
E= Eye Abnormalities
The E in PHACE syndrome is not a common occurrence.
The most likely noted eye anomalies are:
Posterior segment anomaly
Persistent fetal vasculature (Persistent hyperplastic primary vitreous)
Retinal vascular anomalies
Morning glory disc anomaly
Optic nerve hypoplasia
Rarely noted eye anomalies are:
Cataract Anterior segment abnormality-Sclerocornea
Changes to the eye caused by the hemangioma itself are not considered true PHACE-related eye anomalies (E).
PHACE Fact #13
Some children with PHACE Syndrome are born with abnormalities of the sternum. The sternum is the bone in the middle of the chest that joins the two sides of the rib cage.
Sternal abnormalities are included as Midline Defects associated with PHACE Syndrome. Additional midline anomalies can include: Supraumbilical raphe, Omphalocele and Midline facial anomaly.
PHACE Fact #14
PHACE Syndrome is thought to be caused by spontaneous changes in the genes of some cells in the body early in development. Girls are more likely to be diagnosed with PHACE, the reason for this is still unclear. Neither gender is affected more severely.
PHACE Syndrome is not inherited and no familial cases have been identified to date. Since PHACE Syndrome is not hereditary, it is more difficult to find a large number of cases to support research. There are currently just over 1,000 known cases of PHACE Syndrome with likely many additional cases that go undiagnosed due to lack of awareness.
PHACE Syndrome is still a relatively new diagnosis, first given its name in 1996. The PHACE Syndrome Community non-profit organization and its Medical Advisory Board (MAB) are working to help bring education and awareness to the medical community and the general public.
PHACE Fact #15
Dr. Dawn Siegel and Dr. Beth Drolet from the PHACE Syndrome Community MAB were awarded two research grants via the Gabriella Miller, Kids First Research Program. In 2018, they collected and submitted samples for DNA sequencing. Over 100 PHACE syndrome families participated in the project.
The Kids First analysis is going strong. The doctors have received the results from the whole genome sequencing done through the National Institutes of Health, Gabriella Miller Program, and they are hard at work analyzing this data. The goal of this project is to identify changes in genes that might play a role in the cause of PHACE Syndrome, hemangiomas and other structural birth defects.
PHACE Fact #16
PHACE Syndrome Registry Update
Currently, we have two clinical PHACE Syndrome studies underway using the PHACE Syndrome Registry database.
We are investigating the progression of cardiac anomalies in PHACE over time. This is being accomplished by reviewing, with a pediatric cardiologist, echocardiograms from birth compared with repeat echocardiograms at age 10 years and older. This will help determine if there is progression of cardiac conditions, specifically involving the Aortic Arch, over time in PHACE.
Our team is conducting a study investigating specific eye conditions in PHACE Syndrome. We are collaborating with a pediatric neuroradiologist, as well as other subspecialists, to review imaging and ophthalmology reports to better determine the range of eye anomalies in PHACE.
Click the video below to watch:
PHACE Registry & Research by Dr. Siegel
LATEST RESEARCH PAPERS
Our mission is to raise awareness about PHACE, grow our community, support new research and share advancements in treatment for those affected by this syndrome.
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