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Case Reports in Dermatological Medicine
Volume 2015 (2015), Article ID 487562, 4 pages
Case Report

Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome

1Pediatric Surgery Service, Hospital CU Virgen de la Arrixaca, El Palmar s/n, 30150 Murcia, Spain
2Vascular Anomalies Unit, Pediatric Surgery Department, Hospital La Paz, Madrid, Spain

Received 3 April 2015; Revised 8 June 2015; Accepted 10 June 2015

Academic Editor: Masatoshi Jinnin

Copyright © 2015 María Fernández-Ibieta and Juan Carlos López-Gutiérrez. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients’ hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon.