PHACE syndrome

Other Names: PHACE association; PHACES association; Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities; Pascual-Castroviejo type II syndrome; P-CIIS; Pascual-Castroviejo syndrome type 2 PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities. It affects girls much more often than boys.

Cause

The cause of the condition is currently unknown. Researchers believe that it is caused by a postzygotic somatic mosaic mutation or a mutation that can occur on any autosomal chromosome. Due to its mosaic pattern it may be harder to determine the cause since a fraction of the cells in the body contain the mutated DNA while the rest contain unaffected strands. The disorder may also be caused by several genetic, but also environmental factors.

Signs and symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormal cerebral artery morphology(Abnormality of cerebral artery)

30%-79% of people have these symptoms

• Abnormal cardiac septum morphology
• Cerebral arteriovenous malformation
• Dandy-Walker malformation
• Glaucoma
• Microphthalmia(Abnormally small eyeball)
• Optic nerve hypoplasia

5%-29% of people have these symptoms

• Abnormal carotid artery morphology
• Abnormality of the orbital region(Abnormality of the eye region)
• Abnormality of the sternum(Sternal anomalies)
• Agenesis of corpus callosum
• Amblyopia(Lazy eye)
• Aortic root aneurysm(Bulge in wall of root of large artery that carries blood away from heart)
• Capillary hemangioma(Strawberry birthmark)
• Cataract(Clouding of the lens of the eye)
• Cerebellar hypoplasia(Small cerebellum)
• Coarctation of aorta(Narrowing of aorta)
• Ectopic thyroid(Abnormal thryoid location)
• Global developmental delay
• Hemiplegia/hemiparesis(Paralysis or weakness of one side of body)
• Heterochromia iridis9Different colored eyes)
• Hypothyroidism(Underactive thyroid)
• Iris coloboma(Cat eye)
• Lens coloboma
• Microcephaly(Abnormally small skull)
• Muscular hypotonia(Low or weak muscle tone)
• Ptosis(Drooping upper eyelid)
• Retinal vascular malformation
• Sclerocorne(Hardening of skin and connective tissue)
• Seizure
• Strabismus(Cross-eyed)
• Tetralogy of Fallot
• Visceral angiomatosis

Diagnosis

Since the initial sign of PHACE syndrome is usually a large facial hemangioma, infants that are born with such a sign should be further analyzed to diagnose or rule out PHACE syndrome. A series of radiologic tests such as a magnetic resonance images (MRI) or a magnetic resonance angiograms (MRA) of the head, neck, and chest. Following the series of imaging tests, the physician should perform an echocardiogram on the infant to observe any abnormalities. If there are any abnormalities detected on these scans, the infant may suffer from PHACE syndrome.

Treatment

Due to the disorders rare occurrence there is no standardized treatment or protocol. There were no clinical trials conducted on patients that suffer from PHACES syndrome, therefore, we are unaware of the safety or potential treatment for such a condition. At this moment we can find a series of single case reports of patients.

Physicians treat specific syndromes of the disorder in order to improve the lives of patients. Testament usually involves a collaboration of many medical professionals. These medical professionals include, but are not limited to: dermatologists, doctors who have specialized in diagnosing and treating skin disorder; ophthalmologists, specialists of the eyes; cardiologist, doctors of the heart; endocrinologists, specialists of the endocrine system; neurologists and or neurosurgeons, specialist in treating and diagnosing conditions of the brain; otolaryngologists, specialists of the ear, nose, and throat; dentists, who are specialized in treating conditions of the teeth, speech pathologists; psychiatrists, and many others.

NIH genetic and rare disease info

• NIH info on PHACE syndrome

PHACE syndrome is a rare disease.

PHACE syndrome Resources
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