Hemangiomas & PHACE Syndrome
What are hemangiomas?
Affecting 5 percent of newborns, hemangiomas are the most common vascular birthmark. Far more than a cosmetic issue, infantile hemangiomas, commonly known as strawberry birthmarks, are vascular tumors that grow rapidly in the first few months of life. They can cause a range of medical problems, including bleeding, pain, airway obstruction, visual disorders, and difficulty feeding. Commonly found on the face, these tumors can also cause permanent scarring. As a further complication, large facial hemangiomas can be associated with a collection of disorders known as PHACE.
What is PHACE Syndrome?
- Posterior fossa – brain malformations that are present at birth
- Hemangioma – a birthmark that’s caused by an overgrowth of blood vessels on the skin of the face, head, or neck
- Arterial lesions – abnormalities of the blood vessels in the neck or head
- Cardiac abnormalities/aortic coarctation – malformation of the heart or the blood vessels that are attached to the heart
- Eye abnormalities – one or several eye irregularities affecting the nerves, iris, or retina
PHACE increases the risk of stroke, moyamoya vasculopathy, and growth delay. Individuals with PHACE can also experience hearing and dental problems. To date, there are no effective therapies to prevent these complications in PHACE.
PHACE Syndrome Registry & Research
Dr. Siegel founded the PHACE International Clinical Registry and Genetic Repository in 2006 and is working to determine the risk factors for complications in hemangiomas and PHACE and then to develop pharmacologic treatments.
We have conducted studies to determine the potential prenatal risk factors for hemangiomas and PHACE. These studies did not reveal associations with prenatal medications, infections, trauma, or bleeding. However, known or suspected miscarriage in mothers of individuals with PHACE was statistically significantly higher than the rate in the general population. Rates of preeclampsia and placenta previa during the gestation were also higher in the mothers of individuals with PHACE than in the general population. Girls are 6 times more likely than boys to have PHACE. We are currently investigating genetic factors for the female predominance in hemangiomas and PHACE.
Dr. Dawn Siegel is passionate about identifying underlying genetic causes of infantile hemangioma and related conditions and developing innovative treatments for children. As an international expert in PHACE, Dr. Siegel is ideally poised to lead a Stanford team seeking the genetic cause and treatments for hemangiomas and PHACE.
We are grateful to the PHACE Syndrome Community and all the families who have participated in our research.
Recent PHACE Registry Publication
Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes. Pediatr Dermatol. 2020;37(1):78-85. doi:10.1111/pde.14006
In this study, we examined the histo‐pathologic features of midline anomalies associated with infantile hemangioma (IH). Study participants were mainly identified through the International PHACE Syndrome Clinical Registry and Genetic Repository, the Hemangioma Investigator Group (HIG), and the Pediatric Dermatology Research Alliance (PeDRA). We showed a new association between PHACE syndrome and rhabdomyomatous mesenchymal hamartoma (RMH), in addition to demonstrating the association between PHACE syndrome and chin hamartomas.