PHACE Syndrome
PHACE Syndrome was first recognized in the medical literature by Dr. Ilonia Frieden and colleagues in 1996.
PHACE is an acronym which refers to:
Posterior fossa abnormalities,
Hemangioma,
Arterial lesions,
Cardic abnormalities/aortic coarctation and abnormalities of the
Eye.
PHACE Syndrome has been defined by a broad definition which included a facial hemangioma and one or more extracutaneous features. The syndrome is associated with a increased risk of neurological and congnitive impairments. Since first being defined in the literature physicians from Vascular Anomaly Centers from around the world have worked to define the natural history and long term clinical outcome for infants diagnosed with PHACE Syndrome. The first step was to form a general consensus statement for the diagnosis of PHACE Syndrome. In November of 2008 at the PHACE Syndrome Research Conference in Houston TX a panel was formed to discuss the key features of PHACE. The panel used clinical information, published research and information presented at the conference to formulate a general consensus statement. The panel corresponded electronically for 9 months revising the statement. The outcome was published in the journal Pediatrics in November 2009.
There are both major and minor characteristics of PHACE syndrome defined by the published criteria. The criteria is classified by organ system affected. The organ systems include cerebrovascular, structural brain, cardiovascular, ocular, ventral or midline anomalies.
Major Criteria
Cerebrovascular: Anomalies of the major cerebral arteries
Structural Brain: Posterior fossa anomaly including Dandy Walker Anomaly
Cardiovascular: Aortic arch anomaly, aberrant origin of the subclavian artery
Ocular: Posterior segment abnormalities
Ventral or Midline: Sternal defects.
Minor Criteria
Cerebrovascular: Persistent embryonic arteries, intracranial hemangioma
Structural Brain: Midline anomalies, neuronal migration disorder
Cardiovascular: Verntricular septal defect, right aortic arch
Ocular: Anterior segment abnormalities
Ventral or Midline: Hypopituitarism
PHACE syndrome can be diagnosed in patients that present with a facial hemangioma >5cm in diameter plus 1 major criteria or 2 minor criteria.
Possible PHACE syndrome can be considered as a diagnosis in patients that present with hemangioma of the neck or upper torso plus 1 major or 2 minor criteria or in patients with no hemangioma plus 2 major criteria noted.
Imaging studies of the head, neck and chest can be used to help the clinician diagnose PHACE syndrome. These images are done by MRI, MRA and ultrasound.
Patients meeting the criteria for PHACE should be evaluated by physicians experience in the management of vascular anomalies. Multidisciplinary vascular anomaly centers can best evaluate the patient utilizing the various medical disciplines.
The treatment of PHACE syndrome includes the management of the different anomalies noted in the patient.
Patients presenting with a large hemangioma of the head and neck should be evaluated for PHACE in the first days of life.
References:
Metry D, Heyer G, HessC, Garzon, M, Haggstrom A, Frommelt P, Adams D, Siegel D, HallK, Powell J, Frieden I, Drolet B, Consensus Statement on Diagnostic Criteria for PHACE Syndrome, Peditrics. 2009, Nov;124(5):1447-56
Frieden IJ, Reese V. Cohen D. Phaces. ARCH Dermatol. 1996;132:307-311
Metry D, Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The Many Faces of PHACE Syndrome. J. Pediatric. 2001 Jul:139(1):117-23
Metry, Haggstrom, Drolet, Baselga, Chamlin, Garzon, A prospective study of PHACE syndrome: Am J. Med Genet Annals; 2006 140:975-86
Metry D, Heyer G, Hess C, Garzon, M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B, Consensus Statement on Diagnostic Criteria for PHACE Syndrome, Pediatrics. 2009, Nov;124(5):1447-56
