PHACES syndrome
Morcillo Azcárate, J.; Bernabeu-Wittel, J.; Fernández-Pineda, I.; Conejo-Mir, M.D.; Tuduri Limousin, I.; Aspiazu Salinas, D.A.; de Agustín Asensio, J.C.
Cirugia Pediatrica Organo Oficial de la Sociedad Espanola de Cirugia Pediatrica 23(2): 92-94
2011
ISSN/ISBN: 0214-1221 PMID: 21298917 Document Number: 655269
PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.