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PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

  • Gerald Wendelin (a1), Erwin Kitzmüller (a1) and Ulrike Salzer-Muhar (a1)

The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.

Corresponding author
Correspondence to: Univ. Prof. Dr. Ulrike Salzer-Muhar MD, Universitätsklinik für Kinder- und Jugendheilkunde, Klinische Abteilung für Pädiatrische Kardiologie, Währinger Gürtel 18–20, A-1090 Wien, Austria. Tel: ++43 (0)1 40400 3217; Fax: ++43 (0)1 40400 3417; E-mail:
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MetryD, HerbertAA. Benign cutaneous vascular tumors of infancy. When to worry, what to do.Arch Dermatol2000; 136: 905914.

Pascual-CastroviejoI. Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas.Neuroradiology1978; 16: 8284.

FriedenIJ, ReeseV, CohenD. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities.Arch Dermatol1996; 132: 307311.

GorlinRJ, KantaputraP, AughtonDJ, MullikenJB. Marked female predilection in some syndromes associated with facial hemangiomas.Am J Genet1994; 52: 130135.

DroletBA, EsterlyNB, FriedenIJ. Hemangiomas in children.N Engl J Med1999; 341: 173181.

MetryDW, DowdCF, BarkovichAJ, FriedenIJ. The many faces of PHACE syndrome.J Pediatr2001; 139: 117123.

CoatsDK, PaysseEA, LevyML. PHACE: A neurocutaneous syndrome with important ophthalmologic implications: case report and literature review.Ophthalmology1999; 106: 17391741.

JamesPA, McGaughranJ. Complete overlap of PHACE syndrome and sternal malformation–vascular dysplasia association.Am J Med Genet2002; 110: 7884.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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