PHACE Syndrome

 PHACE is an acronym which refers to the medical findings of: 

P-posterior fossa abnormalities,

H-hemangioma,

A-arterial lesions,

C-cardic abnormalities/aortic coarctation and abnormalities of the

E-eye. 

 

PHACE was first described in the literature by Dr. llonia Frieden and colleagues in 1996.  Since then the diagnosis has been defined by a collaborative effort of physicians and researchers from leading vascular anomaly treatment centers.  NOVA works closely with these physicians and researchers to ensure that the most accurate information is provided to our families. 

The History of PHACE Syndromehas been defined by a broad definition which included a facial hemangioma and one or more extra-cutaneous features.  The syndrome is associated with a increased risk of neurological and cognitive 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.

The diagnosis of PHACE Syndrome can be made in patients presenting with a facial or neck hemangioma measuring > 5 cm in diameter plus 1 of the major criteria or 2 of the minor criteria.

PHACE syndrome may be considered in patients that present with a hemangioma of the neck or upper torso plus 1 of the major criteria or 2 of the minor criteria or in patients with no hemangioma plus 2 major criteria noted below.

Major Criteria

Cerebrovascular:  Anomalies of the major cerebral arteries

Structural Brain:  Posterior fossa anomaly including Dandy Walker Anomaly, cerebrallar hypoplasia, absent foramen lacerum, polymicrogyria, absent pituitary

Cardiovascular:  Aortic arch abnormalities, aberrant origin of the subclavian artery, aortic stenosis, abnormal pulmonary vein,

Ocular: Posterior segment abnormalities, retinal abnormality, Iris vessel hypertorphy, Morning Glory Disc, Optic nerve hypoplasia,

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, patent foramen ovale, dectrocardia, persisten left superior vena cava, pulmonary stenosis

Ocular: Anterior segment abnormalities, microphthalmos, coloboma, congenital cateracts, sclerocornea, Iris hypoplasia, Horner Syndrome

Ventral or Midline:  Hypopituitarism

Other associated anomalies:  parital or complete agenesis of sternum, sternal cleft or pit, sternal papule, lingual ectopic thyroid, supraumbilical raphe, omphalocele, pituitary insufficiency, micorgnathia, “low set” ears, orofacial clefting, spina bifida, esophageal diverticulum, cerical cyst, ipsilateral hearing loss.

What Causes PHACE Syndrome?  There has been a great deal of research done to understand the cause of PHACE syndrome.  Unfortunately the exact cause is still unknown.  PHACE is the acronym used to describe a collection of medical findings.  PHACE has a shared biology of other vascular anomalies.  Reseach is ungoing to find the cause of all vascular anomalies inlcuding PHACE syndrome.  Physicians and Scientists  are working to understand the biology of vascular anomalies, how and why they form. 

 How is PHACE Syndrome Diagnose? It is recommended that any infant with a large facial hemangioma evaluated by a physician experienced in the diagnosis and treatment of vascular anomalies.  NOVA has a listing of treating physicians and centers .    If PHACE is suspected special testing may be needed.  These tests include radiological imaging of the head and neck, MRI, MRA, and ultrasound of the chest and blood vessels of the next, Echocardiogram.   NOVA encourages all individuals with a suspected diagnosis of PHACE to vist a multi-disciplinary treatment center for an accurate diagnosis and treatment plan.  The pediatric specialists of a multi-disciplinary team include physicians in the fields of cardiology, dermatology, hematology/oncology, ophthalmology, otolaryngology, neurology, radiology, genetics and psychology. 

How is PHACE Syndrome treated?   The treatment of PHACE syndrome  varies based on the symptoms and findings of the diagnostic testing.  Treatment depends on the severity of the disease and the associated medical problems.

Patients presenting with a large hemangioma of the head and neck should be evaluated for PHACE in the first days of life.

Current Reseach for PHACE:  NOVA PHACE Research

Each year NOVA hosts fundrasing events dedicated to PHACE.  This money is used for patient support, research, registry and to host medical conferences for PHACE patients and their families.  If you are interested in donating to NOVA for PHACE please contact us at khall@novanews.org

NOVA works closely with the major treating centers for PHACE.  For more information on the management of PHACE contact us at khall@novanews.org

Special Thanks to the PHACE Foundation of Canada http://www.phacesfoundation.com/   for the sponsorship and donations to NOVA.  Their support was used to provide a Grant to the Medical Center of Wisconsin for the newly updated PHACE Syndrome Registry and webisite.  It was also used to  help publish and produce the PHACE Syndrome Handbook. 

 

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, Pediatrics. 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

  Rev 10/2012

 

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