PHACE Syndrome: New Views on Diagnostic Criteria

Abstract

The association of large facial hemangiomas with posterior fossa malformations and vascular anomalies has been termed the PHACE syndrome. It is characterized by the association of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, and eye abnormalities. Since most articles focus on isolated case reports, an extended retrospective literature review of all reports of large hemangiomas with associated abnormalities of the central nervous system and other malformations was performed to examine the clinical features, and other not as yet reported associated anomalies. Reports were found on 59 patients with PHACE syndrome, to which we added ten cases of our own. The Dandy-Walker syndrome is the most common CNS abnormality reported in association with PHACE syndrome and was seen in 48 (81 %) patients. Arterial malformations were found in 13 (22 %) cases; only 11 patients (19 %) had structural arterial abnormalities without associated Dandy-Walker complex. As published, about one third of patients (31 %) had further ophthalmologic abnormalities, and cardiac anomalies, including coarctation of the aorta. Subglottic hemangiomas were seen in 4 (7 %) patients and ventral developmental defects also in 3 cases. In seven of 59 patients (12 %) with PHACE syndrome, intracranial hemangiomas were present. This study demonstrates that among other CNS abnormalities, special attention should be given to intracranial hemangiomas which seems to be a peculiar phenotype of PHACE syndrome. We therefore suggest that a sixth criterion should be added to the five minimal inclusion criteria for PHACE syndrome. The inclusion criteria would then be: arterial abnormalities or/and intracranial hemangiomas. On the basis of our experience with our patients and with those previously reported, we stress the importance of using contrast-enhanced imaging to detect intracranial lesions.

A Case of Cerebellar Capillary Hemangioma with Multiple Cysts

“…There have been reports of several cases of intracranial lesions demonstrating imaging characteristics and treatment responses similar to extracranial capillary hemangiomas [12,13,14,15]. It is possible that there have been asymptomatic cases harboring intracranial capillary hemangiomas that regressed unrecognized.…”

“…A review by Poetke et al [13 ]stated that 12% of patients with PHACE syndrome had intracranial hemangiomas. Following the first report of PHACE syndrome by Frieden et al [25 ]in 1996, more than 200 cases have been reported.…”

PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations

“…The overall frequency of posterior fossa anomalies in patients with PHACE varies by published report from 30.4% to 81%. 7,14,16 In a study characterizing the neuroimaging features of PHACE, 24 (41%) of 59 patients had structural brain abnormalities detected. 17 All brain lesions that were unilateral had associated cerebral arteriopathy and cutaneous hemangioma on the ipsilateral side.…”

PHACE association with intracranial, oropharyngeal hemangiomas, and an atypical patent ductus arteriosus arising from the tortuous left subclavian artery in a premature infant

“…Between 43% and 90% of patients with PHACE have a central nervous system (CNS) structural malformation2,5,6,9,15). Our patient also exhibited a posterior fossa anomaly, Dandy-Walker variant.…”