What is PHACE syndrome?

What is PHACE syndrome?

PHACE syndrome (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, and eye anomalies) is an uncommon disorder of unknown etiology characterized by large segmental hemangiomas of the face and various developmental defects.

How common is PHACE?

Although relatively uncommon, more than 400 cases of PHACE syndrome have been reported in the medical literature. This number, however, is most likely an underrepresentation of the true number of PHACE Syndrome cases due to a variety of reasons.

How many cases of PHACE syndrome are there?

There are over 300 cases in the literature, and it is considered one of the most frequent neurocutaneous vascular disorders in childhood. According to several studies, when the IH develops on the face and is segmental or large, the likelihood of it being associated with PHACE syndrome is 20% to 31%.

What is Supraumbilical raphe?

Definition. An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). [

Which syndrome is cavernous hemangioma commonly associated with?

Cavernous Hemangioma of the Retina CHR is associated with cerebral cavernous malformations (CCMs) in the con-text of an autosomal dominant syndrome with high penetrance and variable expressivity.

How serious is PHACE syndrome?

What is PHACE Syndrome? Most infantile hemangiomas are not serious. However, children with certain types of facial hemangiomas may have other related issues.

How do you test for PHACE syndrome?

An echocardiogram is a test that uses reflected sound waves to create images of the heart, and can reveal structural heart defects associated with the disorder. An eye doctor will conduct a thorough, extensive eye examination to look for eye abnormalities that may be associated with PHACE syndrome.

Can you get a hemangioma later in life?

Hemangiomas can form during adulthood. In adults, this benign growth of blood vessels is a cherry angioma. The round, cherry-red spots may be smooth or raised. They typically appear on a person’s trunk after age 30.

What are cavernous hemangioma symptoms?

What are the symptoms of a cavernous hemangioma in the brain?

• Seizures. This is the most common first symptom.
• Blurred vision, double vision, loss of vision.
• Weakness in your arm or leg.
• Facial drooping.
• Unsteady walk.
• Headaches.
• Dizziness, tinnitus, hearing loss.
• Impaired speech.

How is PHACE syndrome treated?

Surgery may be necessary to treat some of the complications of PHACE syndrome including hemangiomas, certain heart defects, and blood vessel abnormalities. Hearing aids or restorative hearing surgery may be necessary to treat hearing loss.

Summary PHACE syndrome is a rare disorder that affects multiple systems of the body. This disorder is characterized by an association of several different abnormalities that occur together with greater frequency than would otherwise be expected. The term PHACE is an acronym; each letter stands for a word.

What does Phace stand for?

The mnemonic PHACE stands for P osterior fossa brain malformations, H emangioma, A rterial lesions, C ardiac abnormalities, and E ye abnormalities. PHACE syndrome should be considered in infants with large plaque-type facial hemangiomas.

What are the treatment options for PHACE syndrome?

Treatment trials would be very helpful to determine the long-term safety and effectiveness of specific medications and treatments for individuals with PHACE syndrome. Surgery may be necessary to treat some of the complications of PHACE syndrome including hemangiomas, certain heart defects, and blood vessel abnormalities.

What is the quality of life like for children with PHACE syndrome?

Long-term quality of life varies, with some children being mildly affected and others having more severe findings. In addition to the obvious visual characteristic (the hemangioma), children with PHACE Syndrome sometimes suffer from strokes and seizures – which are generally at their worst when the hemangioma is in its growth phase.