Faculty Collaboration Database

PHACES association: a vasculocutaneous syndrome. Pediatr Cardiol 2008 Jul;29(4):793-9

Date

04/23/2008

Pubmed ID

18427881

DOI

10.1007/s00246-008-9204-5

Scopus ID

2-s2.0-46749102825 (requires institutional sign-in at Scopus site)   26 Citations

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.

Author List

Rao RP, Drolet BA, Holland KE, Frommelt PC

Authors

Peter C. Frommelt MD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin
Kristen E. Holland MD Associate Professor in the Dermatology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Aorta, Thoracic
Face
Female
Hemangioma
Humans
Infant
Infant, Newborn
Male
Skin Neoplasms
Syndrome
Vascular Malformations