PHACE Syndrome was first reported by Dr. Ilona Frieden in 1996. In the past 13 years, dedicated physicians and scientists have been raising awareness and understanding of this syndrome by publishing both prospective and retrospective studies in medical literature.
What is PHACE syndrome?
PHACE syndrome is the association of a large hemangioma usually on the face or neck, in combination with one or more other abnormalities. Every infant diagnosed with PHACE syndrome has different medical needs. Some have mild symptoms while other have more severe symptoms. PHACE syndrome is uncommon but may have been misdiagnosed in the past. It affects girls nine times more often than boys.
The term PHACE is an acronym that was coined in 1996 and refers to a group of abnormal medical findings. When these occur in combination, the diagnosis of PHACE syndrome is made.
PHACE defined:
Posterior fossa-These are brain malformations that are usually present at birth. These brain malformations do not form after the infant is born.
Hemangioma– The hemangioma usually covers a large area on the skin of the head and/or neck (greater than 5 cm). The term “segmental” is sometimes used to describe these hemangiomas.
Arterial lesions– The abnormalities of the blood vessels in the neck and/or head.
Cardiac abnormalities/aortic coarctation-abnormalities of the heart and/or the blood vessels that are attached to the heart.
Eye abnormalities.
What causes PHACE syndrome?
There has been a lot of progress in recognizing and understanding PHACE syndrome, but there is no known cause. Researchers at Children’s Hospital of Wisconsin, The Medical College of Wisconsin and the Hemangioma Investigator Group have ongoing research studies. These groups have recently published criteria for diagnosis of PHACE syndrome so earlier detection may lead to earlier and safer treatments.
How is the diagnosis of PHACE syndrome made?
It is recommended that any infant with a large facial hemangioma be evaluated by a pediatric dermatologist, a pediatric ophthalmologist or a physician that is familiar with PHACE syndrome. If PHACE syndrome is suspected, special radiology tests may be needed. These tests may include an MRI/MRA of the head, neck and chest and an echocardiogram. If the tests are abnormal, the infant should be seen by a multidisciplinary vascular anomalies team. This includes the specialists that are needed to give the ongoing care that the infant will need. The pediatric specialists that may be needed to treat these infants include a dermatologist, hematologist/oncologist, ophthalmologist, radiologist, neurologist, geneticist, cardiologist and otolaryngologist who are all familiar with treating this syndrome.
What are the complications of PHACE syndrome?
The hemangiomas found in patients with PHACE syndrome are more likely to have complications. If the hemangioma is near the eye it may cause problems with development of the vision in that eye. The facial hemangioma on these infants is more likely to break open and bleed. When a hemangioma breaks open, it is usually very painful and the infant needs prompt attention and often, pain medication. Fussiness, poor feeding and difficulty sleeping are all signs that the infant may be having pain.
More serious complications may develop depending on the other anomalies that are found in the infant.
Infants that have PHACE syndrome may be at risk for other neurological problems even after the hemangioma has gotten better. These problems may include migraine headaches, seizures, developmental delays, speech delays and very rarely ischemic strokes. These symptoms may be the result of structural defects or cerebrovascular events from the arterial defects.
Infants with cardiovascular defects need close monitoring by a pediatric cardiologist for ongoing care and treatment. The most common cardiac defects associated with PHACE syndrome is a coarctation of the aorta or other aortic arch abnormalities. If severe, the coarctation may require surgery.
Infants need to have frequent visits with an ophthalmologist if there are signs of eye involvement. They may need early treatment to prevent loss of sight.
What is the treatment for PHACE syndrome?
The treatment for PHACE syndrome may vary for each infant. Treatment will depend on the severity of the disease and associated problems.
What is known: There is a general same side relationship between the hemangioma and the underlying anomalies – this suggests a developmental defect. The theory implies that there are certain insults of embryonic development at a specific critical time, these insults may give rise to very similar developmental outcomes; There are no family reports suggesting a familial pattern of PHACE; Affected boys do not seem to have an increase severity of the disease to suggest x-link dominant inheritance; There is a 8-9:1 female : male predominance; Birth weight in PHACE patients are average; 70% of PHACE children have congenital brain lesions that are detectable on MRI and MRA; 1/3 of the children with brain lesions have neurological problems including developmental delays, seizures/epilepsy and migraine like headaches;. A smaller % of patients develop progressive cerebral vasculopathy-arterial ischemic stroke.
Source: Children’s Hospital of Wisconsin, NovaNews.org
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