PHACES Syndrome

Introduction

PHACES syndrome is characterized by:

  • Posterior fossa malformations (commonly Dandy-Walker)
  • Hemangiomas (usually large, segmental)
  • Arterial anomalies
  • Cardiac anomalies
  • Eye abnormalities
  • Sternal cleft

The etiology of PHACES is unknown, but it is more commonly found in females than in males (8-9:1).

Signs and Symptoms

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Metry, D.W., Haggstrom, A.N., Drolet, B.A., Baselga, E., Chamlin, S., Garzon, M., Horii, K., Lucky, A., Mancini, A.J., Newell, B., Nopper, A., Heyer, G. and Frieden, I.J. (2006), A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications. Am. J. Med. Genet., 140A: 975–986. doi:10.1002/ajmg.a.31189

Hemangiomas are often present at birth or appear shortly after. Hemangiomas that require further evaluation include those with certain locations (e.g. periorbital, beard distribution, lumbosacral, etc) and segmental hemangiomas because they are associated with the presence of visceral hemangiomas. Infants with segmental hemangiomas larger than 5cm located on the head should raise clinical suspicion of PHACES syndrome.

Evaluation

A thorough evaluation for PHACES syndrome in an infant requires a team approach, including pediatric cardiology, neurology, dermatology, and ophthalmology.

Because of the association with posterior fossa malformations, MRI with angiography (MRA) is often needed to evaluate the structure and vascular supply of the brain. The side of the body with the hemangioma often correlates with the location of internal organ defects. For example, infants with a segmental hemangioma on the left side of the head often have vascular or structural defects on the left side of the brain.

An echocardiogram and exam by an ophthalmologist are also needed to look for other abnormalities.

Possible Complications

Periorbital hemangiomas can cause swelling of the eyelid, obscuring vision in the affected eye and causes concern for amblyopia.

Hemangiomas in the beard distribution are associated with involvement of the airway and carries the concern of obstruction if the hemangioma enlarges in size.

Depending on the degree of neurologist involvement, other complications could include seizures and developmental delay.

Treatment

Treatments for hemangiomas in PHACES syndrome includes steroids and/or propranolol. However, before propranolol therapy is initiated, infants should be thoroughly evaluated for cardiac defects (especially aortic coarctation) and the CNS vasculature should be evaluated for risk of hypotension and decreased perfusion leading to stroke. Recent studies support the use of lower dose combination steroid and propranolol therapy in patients who have failed monotherapy.

Topical forms of beta blockers and steroids may be used for small lesions that are of cosmetic concern.

 

Resources

Given the variety of malformations and cosmetic considerations with PHACES, it is important to provide families with support resources.

Click on the link below to access the PHACE Syndrome Community Page for a collection of patient and provider related resources.

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References

  1. Gnarra M, Solman L, Harper JI, Syed SB. Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome. Br J Dermatol. 2015 Jan 7. doi: 10.1111/bjd.13588. [Epub ahead of print] PubMed PMID:25639889.
  2. Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996 Mar;132(3):307-11. PubMed PMID: 8607636.
  3. Metry, D.W., Haggstrom, A.N., Drolet, B.A., Baselga, E., Chamlin, S., Garzon, M., Horii, K., Lucky, A., Mancini, A.J., Newell, B., Nopper, A., Heyer, G. and Frieden, I.J. (2006), A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications. Am. J. Med. Genet., 140A: 975–986. doi:10.1002/ajmg.a.31189