PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Abstract

Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Figure 1

Infantile hemangioma on the frontotemporal segment

Figure 4

Infantile hemangioma on the mandibular segment

Figure 5

Brain MRI with a hemangioma on the right periorbital region

Figure 6

MRA showing stenosis and tortuous 1. right internal carotid artery and 2. right posterior cerebral artery

Figure 7

Brain MRI showing hypoplasia of the right cerebellum

Figure 2

Infantile hemangioma on the frontonasal and frontotemporal segments

Figure 3

Infantile hemangioma on the maxillary segment