title: PHACE syndrome misdiagnosed as a port-wine stain.
abstract: We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome.
authors.affiliation: Department of Paediatric Dermatology, St John's Institute of Dermatology, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.
authors.forename: Jason
authors.initials: J
authors.lastname: Thomson
authors.affiliation: Department of Paediatric Plastic Surgery, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.
authors.forename: Aina
authors.initials: A
authors.lastname: Greig
authors.affiliation: Department of Paediatric Ophthalmology, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Lloyd
authors.affiliation: Department of Paediatric Ophthalmology, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.
authors.forename: Danny
authors.initials: D
authors.lastname: Morrison
authors.affiliation: Department of Paediatric Dermatology, St John's Institute of Dermatology, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.
authors.forename: Carsten
authors.initials: C
authors.lastname: Flohr
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001158:Arteries / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities; D002196:Capillaries / Q000002:abnormalities*; D003951:Diagnostic Errors; D005124:Eye Abnormalities / Q000175:diagnosis; D005153:Facial Neoplasms / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis; D018324:Hemangioma, Capillary / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D019339:Port-Wine Stain / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D013577:Syndrome; D054079:Vascular Malformations / Q000175:diagnosis*