PHACES Syndrome
| PHACE Syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 606519 |
| DiseasesDB | 34139 |
| Patient UK | PHACES Syndrome |
Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome (also known as "PHACES Syndrome") is a cutaneous condition characterized by multiple congenital abnormalities.[1][2]
PHACE syndrome should be considered in infants with large plaque-type facial hemangiomas.[3] Children presenting with this dermatologic manifestation should receive careful ophthalmologic, cardiac, and neurologic assessment.
According to one study in infants with large hemagiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.[4]
Contents
Overview
PHACE Syndrome is the uncommon association between large infantile hemangiomas, usually of the face, and birth defects of the brain, heart, eyes, skin and/or arteries. It is an acronym that stands for the medical names of the parts of the body it often impacts:
- Posterior fossa abnormalities and other structural brain abnormalities
- Hemangioma(s) of the cervical facial region
- Arterial cerebrovascular anomalies
- Cardiac defects, aortic coarctation and other aortic abnormalities
- Eye anomalies
Sometimes an "S" is added to PHACE making the acronym PHACES; with the "S" standing for "Sternal defects" and/or "Supraumbilical raphe."
The association of anomalies was first coined by Dr. Ilona Freidan[5] in 1996, making it a relatively new and often unheard of syndrome. A diagnosis is generally made from the physical examination, along with imaging of the head and chest, and an eye examination. PHACE is most commonly diagnosed among female infants. Long-term quality of life varies.
Hemangioma growth phase can last anywhere from 6 to 18 months. Then involution, or healing, of the hemangioma begins. Laser and other surgeries usually are able to make a substantial positive impact on appearance. Long after the hemangioma recedes, any damage it or the other defects caused, may remain. Migraines are common, as are developmental delays.
Signs and Symptoms
Hemangiomas associated with PHACE Syndrome are usually small or not visible at birth, but are easier to see during the first days to weeks of life. They can grow quite fast. Hemangiomas linked with PHACE Syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.
Cause
There has been a great deal of research to understand the cause of PHACE Syndrome. The abnormalities associated with this syndrome are thought to be due to errors that occur very early during development. Unfortunately, why the errors occur, or the exact cause is still unknown. PHACE has a shared biology of other vascular anomalies. There may be a genetic component involved and studies are underway to investigate this idea. No familial cases have been identified to date. Research is ongoing to find the cause of all vascular anomalies including PHACE Syndrome. To contribute to that research, please consider making a donation.
Diagnosis
If the medical history and the actual exam of the hemangioma look typical for PHACE Syndrome, more tests are ordered to confirm the diagnosis. These tests may include:
- Ultrasound
- Magnetic resonance imaging (MRI)
- Magnetic resonance angiography of the brain (MRA)
- Echocardiogram of the heart
- Eye exam by an eye doctor
- Other tests may be needed for diagnosis and treatment
Possible Complications
As it grows, the hemangioma can break down skin, distort facial features or get in the way of other vital functions, such as breathing, vision, and hearing. Other complications will depend on what other structures are involved. These could include developmental delay, seizures, headaches, and abnormal muscle tone if the brain is involved.
Treatment
Usually the hemangioma requires medical therapy. The child may need other therapies, depending on what other organs or structures are involved.
Management
PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pay close attention to how these children develop throughout the school age period. [6][7]
PHACE Syndrome Handbook - Dr. Beth Drolet[8]
See also
References
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- ↑ http://profiles.ucsf.edu/ilona.frieden
- ↑ http://www.phacesyndromecommunity.org/#!phace/c21kz
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