PHACE syndrome: Year of the Zebra

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Introduction0:00–0:26

Face syndrome refers to the association of malformations of the posterior fossa of the brain hemangiomas, arterial anomalies, cardiac anomalies and eye anomalies.
The cause of face syndrome is not fully known, but it may be associated with sporadic mutations on X linked genes and abnormal development in utero.
Now, the most characteristic manifestation of face syndrome is segmental infantile hemangioma, which are benign tumors presenting as soft red blue marks typically on a child's face scalp or neck.

Clinical manifestations0:26–2:42

These hemangioma are typically large, measuring more than five centimeters while the hemangioma are not usually cause for concern.
Other anomalies associated with the syndrome can cause disability. Individuals with face syndrome may also have structural brain abnormalities that typically affect the posterior or back of the brain, such as cerebellar hypoplasia, which is an underdevelopment of the cerebellum, a brain structure responsible for balance and movement.
This can manifest as low muscle tone or difficulty standing or walking next one or more of the arteries that supply blood to the brain may narrow or be absent, decreasing blood flow and increasing the risk of stroke.
These anomalies can also lead to other neurological issues like seizures and neurodevelopmental delays. Now the most common cardiac defect seen in face syndrome is coarctation of the aorta or narrowing of the aorta, which is a large artery responsible for carrying oxygen rich blood from the heart to the rest of the body.
This narrowing can cause damage to the heart over time as the heart must work harder to push against the narrowed vessel.
Finally, eye anomalies typically affect the structures in the back of the eye like the retina or optic nerve. The retina may have abnormalities in its blood supply and the optic nerve may be underdeveloped.
Both of which may lead to vision problems. Additional eye features can include cataracts which is clouding of the lens and microphthalmia or small irregularly formed eyes.
Some individuals with face syndrome may have additional symptoms like hearing problems, feeding difficulties, sternum or breast bone deformities and endocrine anomalies like decreased secretion of thyroid hormones and growth hormone among others.
All right. Now, face syndrome is diagnosed through history, physical examination and identification of characteristic signs and symptoms.

Diagnosis2:42–3:21

Large segmental infantile hemangioma are an easily noticeable feature and they're present at birth or shortly after. So, they're usually the first to raise suspicion of face syndrome.
Various tests may be done to look for other features of face syndrome, including an echocardiogram to look for cardiac anomalies, magnetic resonance imaging of the head, neck or chest to look for arterial anomalies and an ophthalmology exam to rule out any eye anomalies.
Currently, there is no single treatment for face syndrome. Rather, each anomaly is addressed individually.

Treatment3:21–3:48

Infantile hemangiomas are commonly treated with a medication called propranolol, which helps to decrease the size of the hemangioma over time.
Other symptoms such as coarctation of the aorta and other arterial anomalies can be corrected with surgery or interventionist radiology.
All right, it's a quick recap. Face syndrome is a rare disorder characterized by structural defects of the posterior fossa of the brain, large infantile hemangiomas arterial anomalies, cardiac anomalies and eye anomalies.

Recap3:48–4:08

Diagnosis is clinical and treatment involves addressing each anomaly individually.
PHACE syndrome: Video, Causes, and Symptoms | Osmosis