There are no shortage of congenital syndromes that are acronyms arranged into some sort of vaguely pronounceable word. There will be lots of doodles about these, but we’ll start off with a more uncommon one – PHACE Syndrome.
PHACE Syndrome is a collection of findings that go along with large infantile hemangiomas. They’re the more worrisome (but less obviously disfiguring) things you need to look for when you see a baby with a large hemangioma on the face or multiple hemangiomas.
- Posterior fossa brain malformations
- Arterial anomalies
- Cardiac anomalies and coarctation of the aorta
- Eye abnormalities
- Sternal cleft
The most common symptom of PHACE is cerebrovascular abnormalities, followed by cardiac anomalies (coarctation, aortic arch anomalies, VSDs). If you suspect PHACE, do clinical exam of the skin and eyes and MRI of the head, neck and chest.
Other cool facts
- PHACE occurs in full-term normal birth weight infants (other hemangiomas tend to occur in preterm infants)
- Quite common, more girls than boys (8:1)
- Don’t confuse it with Strurge-Weber (port wine stain, associated with the facial dermatomes)
- Port wine stains don’t proliferate and then regress like an infantile hemangioma