WHAT IS PHACES ASSOCIATION OR PHACES SYNDROME?


 P Posterior fossa abnormalities and other structural   brain abnormalities

H Hemangioma(s) of the cervical facial region

A Arterial cerebrovascular anomalies

C Cardiac defects, aortic coarctation and other aortic abnormalities

E Eye Anomalies  

S Sternal defects and/or Supraumbilical raphe

 

  Type and Approximate Incidence of Reported Anomalies in PHACES



 Structural Brain (40%)

 • Posterior fossa, including Dandy-Walker complex, cerebellar hypoplasia/atrophy/
encephalomalacia, and dysgenesis/agenesis of vermis
• Hypoplasia or agenesis of cerebrum, corpus callosum, or septum pellucidum
• Subependymal and arachnoid cysts
• Frontal lobe calcifi cations
• Absent foramen lacerum
• Polymicrogyria
• Microcephaly

 Cerebrovascular (40%)

• Carotid arterial anomalies
• Primary anomalies: Hypoplasia/agenesis, anomalous branches, aberrant origin or
course
• Secondary phenomena: Stenosis/occlusion (including Moyamoya-like collaterals),
aneurysm formation, fusiform or dolicho change, kinking and looping
• Persistent embryonic arteries (eg, trigeminal, carotid-vertebrobasilar anastomoses)

 Cardiovascular (33%)

• Aortic coarctation
• Aneurysms of the ascending aorta, aortic arch, subclavian or innominate arteries
• Right, left, double, interrupted aortic arch
• Congenital valvular aortic stenosis
• Dextroposition of the aorta
• Anomalous coronary arteries
• Ventral and atrial septal defects
• Patent ductus arteriosus
• Pulmonary stenosis
• Anomalous pulmonary veins
• Other: patent foramen ovale, cor triatriatum, tetralogy of Fallot, tricuspid atresia/stenosis,
dextrocardia, persistent left superior vena cava


Ocular (20%)

• Microphthalmos, retinal vascular abnormality, persistent fetal retinal vessels
• Optic atrophy, iris vessel hypertrophy, iris or optic nerve hypoplasia
• Congenital cataracts, sclerocornea, lens coloboma, exophthalmus, congenital 3rd nerve palsy, excavated optic disc anomalies, lens coloboma,“morning-glory,” peripapillary staphyloma, Horner syndrome


Ventral Developmental (20-25%)

 • Sternal defects, including partial or complete agenesis and cleft or pit
• Supraumbilical raphe
• Omphalocele


Miscellaneous: (Few reports)

• Micrognathia, auricular hypoplasia or agenesis/ “low-set” ears, orofacial clefting
• Endocrine: absent pituitary or partially empty sella turcica, lingual ectopic thyroid
• Structural pituitary anomalies + optic disc anomalies/optic nerve hypoplasia + moyamoya
+ multiple endocrinopathies
• Other: spina bifida occulta, widely-spaced nipples, polydactyly, esophageal diverticulum,
cervical cyst, inguinal and umbilical herniae

Source: Metry,DW, A Newborn Girl With A Large Red Plaque On Her Face:Pediatric Annals, 35:6, June 2006

 

 

PHACES Association (Also known as PHACES Syndrome or PHACE Syndrome) is a neuro-cutaneous association of anomalies, first coined by Dr Ilona Freidan in 1996. The acronym PHACES refers to the combination of large segmental hemangiomas (the most prevalent being on the face) and one or more of the following: posterior fossa or other structural malformations of the brain, arterial anomalies, cardiac defects, eye abnormalities and ventral developmental defects.

PHACES is thought to occur mainly in females but there have been a number of cases of males being diagnosed with PHACES

A diagnosis of PHACES is made in the presence of a segmental facial hemangioma in association with one or more of the above anomalies. The majority of infants and children do not have the complete PHACES spectrum of anomalies. Every case of PHACES is different as are the anomalies and medical issues faced by each child. Some cases are mild and some are much more severe.

PHACES was once thought to be a rare disorder. It is now thought to be uncommon as opposed to rare. PHACES is now thought to be more common than Sturge-Weber Syndrome, with which PHACES is at times confused.

Sturge-Weber is associated with a vascular birthmark called a port-wine stain, which unlike a hemangioma (as associated with PHACES) is a capillary -like vascular malformation. It is present at birth (most hemangiomas develop shortly after birth) and it does not show signs of growth during infancy (hemangiomas go through a rapid growth stage called proliferation) Port wine stains undergo minimal expansion and do not regress. (Hemangiomas begin to regress and undergo a process called involution)

Many children with PHACES were at one time thought to have had a Port Wine Stain and were at risk for Sturge-Weber Syndrome. It was only after referral to pediatric dermatologists that these children were shown to actually have hemangiomas. The two often appear similar shortly after birth, but a hemangioma quickly distinguishes itself as it begins to grow at a rapid pace.

It is extremely important that all children who are thought to have (or adults/older children who had a birthmark as a child and present with anomalies associated with PHACES) a facial birthmark be evaluated by a pediatric dermatologist or Vascular Anomalies Centre. These children should undergo neurologic, opthamologic and cardiac investigations to determine the medical needs of each child.



(Sources:)

1. Denise W. Metry, Christopher F. Dowd, A. James Barkovich and Ilona J. Frieden, The Many Faces of Phace Syndrome, The Journal of Pediatrics, July, 2001

2. Denise W. Metry, A Newborn Girl With a Large Red Plaque on Her Face, Pediatric Annals, June 2006