PHACES Syndrome

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PHACE Syndrome
Other namesPascual-Castroviejo type II syndrome, P-CIIS, Pascual-Castroviejo syndrome type 2[1]
SpecialtyMedical genetics Edit this on Wikidata

PHACE Syndrome is a cutaneous condition characterized by multiple congenital abnormalities.[2][3] The mnemonic PHACE stands for Posterior fossa brain malformations, Hemangioma, Arterial lesions, Cardiac abnormalities, and Eye abnormalities[4].

PHACE syndrome should be considered in infants with large plaque-type facial hemangiomas.[5] Children presenting with this dermatologic manifestation should receive careful ophthalmologic, cardiac, and neurologic assessment.

According to one study in infants with large hemangiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome. The most common are cerebrovascular and cardiovascular anomalies.[6]

Signs and Symptoms[edit]

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 rapidly. 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.

Patients who suffer from PHACE syndrome may also experience symptoms such as:

Complications[edit]

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.

Cause[edit]

The cause of PHACE syndrome 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[8].

Diagnosis[edit]

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[9] .

Treatment[edit]

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[10].

Management[edit]

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. [11][12]

PHACE Syndrome Handbook - Dr. Beth Drolet[13]

In 2013, the PHACE Syndrome Community was formed. The non-profit entity was developed to raise awareness about the condition, support patients and families of those with the condition and raise money for research into causes and treatment.

History[edit]

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."

In 1993, an association between large facial hemangiomas and brain defects among 9 subjects was reported.[14] 3 years later, a larger case study was published showing a wider spectrum of grouped malformations.[15] The association of anomalies and the PHACES acronym was first coined by Dr. Vail Reese and Dr. Ilona Frieden in 1996, making it a newly described 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.

See also[edit]

References[edit]

  1. ^ "PHACE syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 27 April 2019.
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  3. ^ Hartemink, David A.; Chiu, Yvonne E.; Drolet, Beth A.; Kerschner, Joseph E. (February 2009). "PHACES syndrome: a review". International Journal of Pediatric Otorhinolaryngology. 73 (2): 181–7. doi:10.1016/j.ijporl.2008.10.017. PMID 19101041.
  4. ^ "PHACE Syndrome". www.cincinnatichildrens.org. Retrieved 2018-10-25.
  5. ^ Metry, DW; Dowd, CF; Barkovich, AJ; Frieden, IJ (2001). "The many faces of PHACE syndrome". The Journal of Pediatrics. 139 (1): 117–23. doi:10.1067/mpd.2001.114880. PMID 11445804.
  6. ^ Haggstrom, AN; Garzon, MC; Baselga, E; Chamlin, SL; Frieden, IJ; Holland, K; Maguiness, S; Mancini, AJ; McCuaig, C; Metry, DW; Morel, K; Powell, J; Perkins, SM; Siegel, D; Drolet, BA (2010). "Risk for PHACE syndrome in infants with large facial hemangiomas". Pediatrics. 126 (2): e418–26. doi:10.1542/peds.2009-3166. PMID 20643720.
  7. ^ Boston Children's Hospital. "PHACE Symptoms & Causes". http://www.childrenshospital.org/conditions-and-treatments/conditions/p/phace-syndrome/symptoms-and-causes. Retrieved 2018-10-24. External link in |website= (help)
  8. ^ "PHACE Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-25.
  9. ^ "PHACE syndrome | Children's Hospital of Wisconsin". www.chw.org. Retrieved 2018-10-25.
  10. ^ "PHACE Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-10-25.
  11. ^ http://www.phacesyndromecommunity.org/#!phace/c21kz
  12. ^ Drolet, Beth. "Dr". http://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/. Retrieved 20 January 2015. External link in |website= (help)
  13. ^ Drolet, Beth. "Dr". http://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/. Retrieved 20 January 2015. External link in |website= (help)
  14. ^ Reese, V; Frieden, IJ; Paller, AS; Esterly, NB; Ferriero, D; Levy, ML; Gellis, SE; Siegfried, EC (March 26, 1993). "Association of facial hemangioma with Dandy-Walker and other posterior fossa malformations". Journal of Pediatrics. 122 (3): 379–384. doi:10.1016/s0022-3476(05)83420-1. PMID 8441091. Retrieved 10 October 2016.
  15. ^ Frieden, IL; Reese, V; Cohen, D (Mar 1996). "PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities". Archives of Dermatology. 132 (3): 307–311. doi:10.1001/archderm.132.3.307. PMID 8607636.

External links[edit]

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