Updated Research Information

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Dr. Denise Metry Shares the Advancements, Achievements, Milestones and Future of PHACE and LUMBAR Research.

The past year has brought significant advancements in our understanding of LUMBAR syndrome, characterized by a segmental infantile hemangioma on the lower body, along with abnormalities of internal organs. LUMBAR syndrome is closely related to PHACE syndrome. In fact, LUMBAR and PHACE are often considered “sister” syndromes, and progress in understanding one can benefit both.

In September 2024, a major milestone was achieved with our publication of the first-ever diagnostic criteria for LUMBAR syndrome. This breakthrough was the result of a collaborative effort involving many international pediatric specialists. These new criteria are expected to improve screening and detection of the condition, raise awareness among medical professionals, and standardize research from the PHACE/LUMBAR registry. This standardization will allow for more accurate studies and ultimately lead to better patient care.

Our recent research has also provided valuable insights into who is affected by LUMBAR syndrome. Like PHACE syndrome, it appears to be more common in full-term, normal birth weight, singleton girls. However, about one-third of babies affected by LUMBAR syndrome are boys. Interestingly, no significant differences in severity were found between girls and boys. Additionally, no cases have been reported in twins or multiple births, and no familial recurrence has been observed.

Another important discovery links LUMBAR and PHACE syndromes: both are associated with unusual skin "tags." This finding provides another clue that may help researchers uncover the underlying cause of these conditions.

Looking ahead, we plan to assess who is at greatest risk for LUMBAR syndrome. This study aims to standardize screening recommendations for newborns with segmental infantile hemangiomas of the lower body. Additionally, efforts are being made to promote enrollment in the LUMBAR registry, which is crucial for further research, particularly in genetic studies and long-term outcome assessments.

Dr. Anna Kerr Discusses the Mapping PHACE Syndrome Study

The long-term outcomes for patients with PHACE syndrome are largely unknown and the psychosocial implications of living with the disorder have not been well-documented. As a result, patients and their caregivers, and even their clinical teams, experience uncertainty about their diagnosis, treatment options, and future. Patient and family support groups are a particularly valuable educational resource given the lack of information available to families. However, patients with PHACE syndrome experience a wide range of symptoms depending on their diagnosis, so many struggle to identify another patient whose journey resembles their own.

Therefore, the goal of our research is to develop an educational "journey map" of the experiences of patients with PHACE Syndrome and their families across life stages. The map will include patient-reported outcomes, patient and caregiver narratives, clinician narratives, and significant events or transitions for patients and their families to anticipate. Our goal is to develop a tool that will increase knowledge, reduce uncertainty, improve decision making, and provide validation and support.

Dr. Dawn Siegel Shares Information About the PHACE and LUMBAR Syndromes Registry

In the Stanford PHACE registry, we are trying to understand the cause of PHACE and LUMBAR. We are also working to determine risk factors that lead to complications in hemangiomas. We hope to develop new treatments for these conditions with our work.