Pediatric Cardiology

, Volume 29, Issue 4, pp 793–799 | Cite as

PHACES Association: A Vasculocutaneous Syndrome

  • Rohit P. Rao
  • Beth A. Drolet
  • Kristen E. Holland
  • Peter C. Frommelt
Original Article

Abstract

PHACES association is a spectrum of anomalies that might occur in infants with large facial hemangiomas. Most infants with PHACES association have segmental hemangiomas of the head or neck. Cardiac and cerebrovascular anomalies might be the most important association, as they carry a significant risk of complications. This article summarizes the dermatologic, cardiac, and cerebral vascular findings in a cohort of infants diagnosed with PHACES association. All had large segmental facial hemangiomas and aortic arch abnormalities. Four of the five were not suspected of having arch obstruction prior to imaging studies because of the aberrant origin of both subclavian arteries, and 4/5 required either interventional or surgical repair for arch obstruction. In contrast to classic aortic coarctation, the aortic anomalies found in the cohort had unusually complex and unpredictable anatomic involvement. Cerebral vascular anomalies were identified in 5/5, and 2/5 had neurologic complications secondary to abnormal cerebral vascular supply. It is important for care providers to recognize this association that presents with a cutaneous stigma, as it is associated with potentially lethal and often unrecognized vascular anomalies. Earlier recognition of the associated vascular pathologies might enable preemptive treatments before potentially devastating and irreversible sequelae.

Keywords

Coarctation Aorta PHACES 

References

  1. 1.
    Bronzetti G, Giardini A, Patrizi A et al (2004) Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review. Pediatrics 113(2):412–415PubMedCrossRefGoogle Scholar
  2. 2.
    Burrows PE, Robertson RL, Mulliken JB et al (1998) Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 207(3):601–607PubMedGoogle Scholar
  3. 3.
    Drolet BA, Dohil M, Golomb MR et al (2006) Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics 117(3):959–964PubMedCrossRefGoogle Scholar
  4. 4.
    Frieden IJ, Reese V, Cohen D (1996) PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 132(3):307–311PubMedCrossRefGoogle Scholar
  5. 5.
    Gargiulo G, Napoleone CP, Giardini A, Formigari R, Pierangeli A (2002) Repair of a complex aortic arch anomaly associated with cutaneous hemangioma. Ann Thorac Surg 74(1):245–246PubMedCrossRefGoogle Scholar
  6. 6.
    Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ (2006) Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 117(3):698–703PubMedCrossRefGoogle Scholar
  7. 7.
    Metry DW, Dowd CF, Barkovich AJ, Frieden IJ (2001) The many faces of PHACE syndrome.[erratum appears in J Pediatr 2001 Sep;139(3):470]. J Pediatr 139(1):117–123PubMedCrossRefGoogle Scholar
  8. 8.
    Pascual-Castroviejo I (1978) Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology 16:82–84PubMedCrossRefGoogle Scholar
  9. 9.
    Quecedo E, Gil-Mateo MP, Pont V, Febrer MI, Aliaga A (1997) Giant hemifacial angioma and PHACE syndrome. Br J Dermatol 136(4):649–650PubMedCrossRefGoogle Scholar
  10. 10.
    Ross G, Bekhor P, Su J, Marks M (2005) A case of PHACE syndrome. Australas J Dermatol 6(4):253–256CrossRefGoogle Scholar
  11. 11.
    Wendelin G, Kitzmuller E, Salzer-Muhar U (2004) PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels. Cardiol Young 14(2):206–209PubMedCrossRefGoogle Scholar
  12. 12.
    Wong CH, Wright JG, Silove ED, Willetts R, Brawn WJ (2001) A new syndrome of multiple hemangiomas, right dominant double aortic arch, and coarctation. J Thorac Cardiovasc Surg 121(6):1207–1209PubMedCrossRefGoogle Scholar
  13. 13.
    Yates R, Syed S, Tsang V, Harper JI (2000) Haemangioma of the head and neck with subglottic involvement and atypical coarctation. Br J Dermatol 143(3):686–688PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Rohit P. Rao
    • 1
  • Beth A. Drolet
    • 2
  • Kristen E. Holland
    • 2
  • Peter C. Frommelt
    • 3
  1. 1.Department of Pediatrics, Divisions of Cardiology and Critical CareMedical College of WisconsinMilwaukeeUSA
  2. 2.Department of DermatologyMedical College of WisconsinMilwaukeeUSA
  3. 3.Department of Pediatrics, Division of CardiologyMedical College of WisconsinMilwaukeeUSA

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