Facing PHACE Twenty-five Years Later

Abstract

Objectives: To review the key features of PHACE syndrome over the past 25 years, highlighting evaluation, management, current gaps in knowledge, and potential next steps in research and patient-centered care. Methods: Literature review and synthesis of expert opinion. Results: PHACE is a congenital neurocutaneous syndrome in which affected patients have posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac anomalies, and/or eye anomalies. Since its discovery 25 years ago, the scientific and medical communities have made strides in understanding and developing best practice approaches to diagnosis, outcomes, and surveillance. More research will be needed to fully elucidate the pathogenesis of this condition as well as long-term outcomes. We offer suggestions for healthcare maintenance to coordinate and streamline multidisciplinary patient care. Conclusions: Our understanding of PHACE syndrome has grown immensely since its discovery. As we continue to learn about long-term outcomes and the importance of surveillance into adulthood, a multidisciplinary and patient-centered approach is critical to optimize care for individuals with this disease.