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.

Figure 1

Segmental haemangioma before treatment (left ptosis) with axial postgadolinium T1 MRI section demonstrating threat to vision (periocular haemangioma) and Dandy-Walker malformation.

Figure 2

Six months into propranolol treatment. Axial postgadolinium T1 MRI at 1 year.