PHACE syndrome is a rare congenital disorder. It involves a specific combination of birth defects that affect multiple body systems simultaneously. Its exact cause is currently unknown.
The Components of PHACE Syndrome
The acronym PHACE defines the components of this syndrome: Posterior fossa malformations, Hemangioma of the cervicofacial region, Arterial anomalies, Cardiac anomalies, and Eye anomalies. An optional “S” is sometimes added, standing for Sternal or abdominal clefting.
The “H” in PHACE, representing hemangioma, is often the most noticeable feature. These are benign growths made of blood vessels that appear as discolored birthmarks on the face, head, or neck. While they may be small or not visible at birth, they can grow rapidly in the first days to weeks of life, covering a large area. These segmental hemangiomas are present in over 95% of patients with PHACE syndrome and are larger than 5 centimeters.
Posterior fossa malformations, the “P,” refer to abnormal structures in the back of the brain, particularly the cerebellum. These brain abnormalities are found in a significant number of PHACE syndrome cases, ranging from approximately 30% to over 80%. Arterial anomalies (“A”) involve abnormal blood vessels in the head, neck, or chest, which can affect blood flow.
Cardiac anomalies (“C”) encompass heart defects or abnormalities of the large blood vessels connected to the heart, such as a narrowed aorta. Eye anomalies (“E”) refer to issues with eye development or vision. Lastly, sternal or abdominal clefting, represented by the optional “S,” involves malformations of the breastbone or abdominal wall.
Diagnosing PHACE Syndrome
The identification of PHACE syndrome often begins with suspicion, prompted by the presence of a large, characteristic facial hemangioma. These hemangiomas are typically segmental, meaning they cover a broad area rather than a small, localized spot. Infants with such hemangiomas, especially those larger than 5 centimeters on the face, scalp, or neck, should undergo an evaluation for PHACE syndrome.
A diagnostic tool is Magnetic Resonance Imaging (MRI) of the brain and neck, which provides detailed pictures of internal organs and can reveal structural brain abnormalities. To assess arterial anomalies, Magnetic Resonance Angiography (MRA) of the head, neck, and aortic arch is performed. This test uses a contrast agent injected intravenously to highlight blood vessels, offering a more detailed view of the arterial system than MRI alone.
An echocardiogram is performed to check for cardiac issues, visualizing the heart and its major blood vessels using sound waves. An eye examination by an ophthalmologist is also conducted to assess vision and the health of the eyes. These imaging and clinical evaluations are performed together to establish a diagnosis.
Treatment Approaches for PHACE Syndrome
Treatment for PHACE syndrome is individualized, reflecting the varied combination and severity of anomalies in each person. A multidisciplinary team approach is employed, involving specialists such as dermatologists, neurologists, cardiologists, and ophthalmologists. This coordinated care ensures all affected systems are addressed.
Medical interventions include medications like propranolol, which has become a first-line treatment for managing hemangiomas. Propranolol works to control or stop the growth of these vascular tumors. While effective, considerations are given to its use in patients with certain arterial anomalies due to potential risks, though adverse neurological events are rare.
Other medications, such as corticosteroids, have also been used to reduce inflammation and promote hemangioma regression. In some cases, laser therapy may be used to improve residual skin discoloration or reduce the size of hemangiomas once their growth has stabilized. Surgical interventions may be necessary to correct specific anomalies, such as certain cardiac defects or arterial malformations.
Long-Term Considerations for PHACE Syndrome
Long-term care for individuals with PHACE syndrome requires ongoing monitoring and follow-up. Regular appointments with various specialists are necessary to track the progression of the condition and manage any new challenges that may arise. The frequency of these follow-up visits depends on the individual’s specific needs and the severity of their condition.
Early intervention therapies play a significant role if developmental delays are observed. Physical therapy, occupational therapy, and speech therapy can help address motor, cognitive, and communication challenges, supporting overall development. While the long-term outcomes for all aspects of PHACE syndrome are still being studied, continuous monitoring and early therapeutic interventions aim to improve the quality of life for affected individuals.