The Prevalence and Clinical Characteristics of PHACE Syndrome in Facial Segmental Hemangiomas: A Single‐Center Retrospective Study

Introduction PHACE syndrome is a neurocutaneous syndrome characterized by large facial segmental hemangiomas as the most typical manifestation. Its prevalence in East Asian is not well studied. Methods The retrospective study included 98 infants with facial segmental hemangiomas who underwent brain MRI/MRA, cardiac ultrasound, and ophthalmology examinations. The prevalence along with documentation of its clinical characteristics of PHACE syndrome was analyzed. Results Among 98 patients, 5 (5.1%) were diagnosed with “definite” PHACE, while none (0.0%) exhibited “possible” PHACE. Most patients with PHACE syndrome had 2 or more segments, of which the frontotemporal segment was most frequently involved. Structural brain anomalies were identified in two patients, four exhibited cerebrovascular anomalies, four displayed cardiovascular anomalies, and two presented ocular anomalies. Following standardized oral propranolol therapy, all patients showed significant regression. One patient received laser treatment for a residual hemangioma. Conclusion The prevalence of PHACE syndrome in facial segmental hemangiomas was 5.1%, predominantly characterized by anomalies in the cerebrovascular and cardiovascular systems. Collaborative multidisciplinary diagnosis and treatment are critical for PHACE patients.