BMJ Case Rep. 2026 Aug 19;19(8):e273029. doi: 10.1136/bcr-2026-273029.
ABSTRACT
PHACE syndrome is a rare congenital condition characterised by the association of facial haemangiomas with structural anomalies. We report the case of an infant presenting with a mixed segmental facial haemangioma and progressive deformity. Diagnostic evaluation revealed hypoplasia of the vertebral arteries and the left posterior communicating artery, as well as an ocular coloboma, confirmed by ophthalmology. Given that early diagnosis is essential to prevent serious complications, this report emphasises that infants with extensive facial haemangiomas should undergo multidisciplinary screening, including neurology, ophthalmology and cardiology, and vascular imaging to ensure comprehensive management.
PMID:42618307 | DOI:10.1136/bcr-2026-273029