PHACES Association: A Vasculocutaneous Syndrome

Abstract

PHACES association is a spectrum of anomalies that might occur in infants with large facial hemangiomas. Most infants with PHACES association have segmental hemangiomas of the head or neck. Cardiac and cerebrovascular anomalies might be the most important association, as they carry a significant risk of complications. This article summarizes the dermatologic, cardiac, and cerebral vascular findings in a cohort of infants diagnosed with PHACES association. All had large segmental facial hemangiomas and aortic arch abnormalities. Four of the five were not suspected of having arch obstruction prior to imaging studies because of the aberrant origin of both subclavian arteries, and 4/5 required either interventional or surgical repair for arch obstruction. In contrast to classic aortic coarctation, the aortic anomalies found in the cohort had unusually complex and unpredictable anatomic involvement. Cerebral vascular anomalies were identified in 5/5, and 2/5 had neurologic complications secondary to abnormal cerebral vascular supply. It is important for care providers to recognize this association that presents with a cutaneous stigma, as it is associated with potentially lethal and often unrecognized vascular anomalies. Earlier recognition of the associated vascular pathologies might enable preemptive treatments before potentially devastating and irreversible sequelae.

Diagnosis and Management of Infantile Hemangioma

“…123 Even in asymptomatic infants, MRI or magnetic resonance angiography (MRA) of the head and neck is indicated, especially given the known potential for progressive vasculopathy and resultant ischemic events in a small subset of severely affected patients. 124 Arterial ischemic stroke, a rare but devastating complication, appears to be more likely in patients with PHACE who exhibit significant narrowing or nonvisualization of large cerebral arteries, especially when more than 1 vessel is involved and/or if there are associated cardiovascular morbidities such as coarctation of the aorta. 125 Through serial neuroimaging of highrisk infants, progressive cerebrovascular changes may be identified early, and neurosurgical revascularization procedures can be performed to potentially reduce arterial ischemic stroke-related morbidity and mortality.…”

Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)

“…Also notable is the absence of associated left heart valve pathology classically seen with coarctation, emphasized by the fact that none of our PHACE subjects with coarctation had aortic valve or mitral valve anomalies (compared to the 50-80% incidence of bicuspid aortic valve associated with typical coarctation). 11 Most importantly, these unusual and severe aortic arch anomalies may be difficult to appreciate clinically in PHACE patients due to the commonly associated aberrant SCA origin, as almost 60% of our cohort has both subclavian arteries arise distal to the obstruction (making 4 extremity blood pressure assessment of obstruction ineffective in identifying the arch gradient). Follow-up data for a small subset of PHACE patients with coarctation cared for at the Medical College of Wisconsin did not show evidence of aortic arch narrowing; however, longer-term data from larger numbers of patients is needed to determine risk for progression.…”

PHACES syndrome: A review

“…More than one-third of all reported cases involved cardiovascular anomalies, with aortic coarctation being the most common, as demonstrated by large case series [16]. The aortic anomalies are especially unique and complex, and dramatic aortic dilatations and aneurysm formation are not uncommon [30]. Overall, aortic dilatations/ aneurysms are rare in children, tend to involve the distal aortic arch and descending aorta, and are usually seen in association with other vascular anomalies of the aortic arch complex (e.g.…”