PHACE syndrome in a child with segmental IH of face.

Guimarães CV, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221793 Description An 8-month-old female infant was referred for paediatric and dermatology consultation for evaluation of a facial haemangioma with progressive growth since the first days of life. The observation showed a large segmental infantile haemangioma (IH) over the right face (figure 1), a small vulvar haemangioma and exotropia of the right eye. Due to the segmental appearance of the facial IH, we prompted the investigation of PHACE syndrome, an acronym corresponding to a set of alterations: Posterior fossa anomalies, Haemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta alterations and Eye anomalies. The MR angiography showed an absence of the right internal carotid artery, with circulation assured through the circle of Willis (figure 2). Ophthalmology assessment revealed microphthalmia and retinal vascular abnormalities of the right eye (figure 3). The echocardiogram was normal and an abdominal ultrasound showed a 2 cm hepatic haemangioma. The definite diagnosis of PHACE syndrome requires the presence of a haemangioma of the head >5 cm in diameter accompanied by one major or two minor criteria. In our case, the presence of the haemangioma plus two major criteria, agenesis of the right internal carotid artery and retinal vascular abnormalities, confirmed the diagnosis. On follow-up at 5 years old, the child presents a normal motor and cognitive development, spontaneous regression of the facial and genital haemangiomas and absence of the hepatic haemangioma. She has decreased visual acuity in the right eye. This case reinforces the importance of early diagnostic suspicion and further investigation in the approach of large segmental IH of the face in infants. PHACE syndrome in a child with segmental IH of face Carolina Vasconcelos Guimarães, Inês Candeias, Ana Pinheiro, Felicidade Trindade Images in...