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Hemangiomas are the most common benign tumor seen in infants. Approximately 5 percent of Caucasian infants are born with at least one hemangioma. Since most hemangiomas are not associated with other conditions and go away on their own without any treatment, the majority of children do not need to see a specialist in vascular anomalies.
However, children with a large facial hemangioma should be seen by a vascular anomalies specialist to look for signs of PHACE.
Although PHACE is relatively uncommon, it may be that some cases of PHACE have been misdiagnosed in the past as another vascular anomaly-associated syndrome, Sturge-Weber syndrome, or simply gone undiagnosed. As clinicians and scientists learn more about the condition and its characteristics, the number of cases will likely rise.
No one has yet discovered the cause of PHACE, though researchers are studying the condition to understand its origins. PHACE does not appear to run in families, and the condition appears more frequently in girls than in boys.
Signs and symptoms
The most common sign of PHACE is the presence of a large (greater than 5 centimeters wide) hemangioma - a benign vascular tumor - on a child's neck, face or scalp.
Every child diagnosed with PHACE has a different combination of abnormalities and symptoms. For the purposes of developing a diagnosis in a child suspected of having PHACE (see Testing & Diagnosis), those abnormalities and symptoms are divided into two categories:
Keep in mind that not every child with PHACE will have these abnormalities; most, in fact, will have only a small subset. A child's diagnosis of PHACE and subsequent treatment will be determined by her specific combination of signs and symptoms and their severity.
Because of the combination of blood vessel and structural abnormalities, children with PHACE are at risk for a range of medical complications, such as:
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