Hostname: page-component-78c5997874-g7gxr Total loading time: 0 Render date: 2024-11-10T07:37:44.214Z Has data issue: false hasContentIssue false
  • English
  • Français

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

Published online by Cambridge University Press:  20 January 2005

Gerald Wendelin ,
Erwin Kitzmüller  and
Ulrike Salzer-Muhar
Gerald Wendelin
Affiliation:
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria
Erwin Kitzmüller
Affiliation:
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria
Ulrike Salzer-Muhar
Affiliation:
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, General Hospital of Vienna, Vienna, Austria
Get access Rights & Permissions [Opens in a new window]

Abstract

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.

Keywords

PHACEhaemangiomasarterial anomaliesaortic anomaliescardiac defects
Type
Brief Report
Information
Cardiology in the Young , Volume 14 , Issue 2 , April 2004 , pp. 206 - 209
Copyright
© 2004 Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Metry D, Herbert AA. Benign cutaneous vascular tumors of infancy. When to worry, what to do. Arch Dermatol 2000; 136: 905–914.Google Scholar
Burns AJ, Kaplan LC, Mulliken JB. Is there an association between hemangioma and syndromes with dysmorphic features? Pediatrics 1991; 88: 1257–1267.Google Scholar
Pascual-Castroviejo I. Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas. Neuroradiology 1978; 16: 82–84.Google Scholar
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; 132: 307–311.Google Scholar
Gorlin RJ, Kantaputra P, Aughton DJ, Mulliken JB. Marked female predilection in some syndromes associated with facial hemangiomas. Am J Genet 1994; 52: 130–135.Google Scholar
Pascual-Castroviejo I, Viano J, Moreno F, Palencia R, Martinez-Fernandez V, Pascual-Pascual SI, Martinez-Bermejo A, Garcia-Penas JJ, Roche MC. Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. Am J Neuroradiol 1996; 17: 461–471.Google Scholar
Drolet BA, Esterly NB, Frieden IJ. Hemangiomas in children. N Engl J Med 1999; 341: 173–181.Google Scholar
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr 2001; 139: 117–123.Google Scholar
Coats DK, Paysse EA, Levy ML. PHACE: A neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology 1999; 106: 1739–1741.Google Scholar
James PA, McGaughran J. Complete overlap of PHACE syndrome and sternal malformation–vascular dysplasia association. Am J Med Genet 2002; 110: 78–84.Google Scholar