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Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome
Joint Authors
Fernández-Ibieta, María
López-Gutiérrez, Juan Carlos
Source
Case Reports in Dermatological Medicine
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-28
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Fernández-Ibieta, María& López-Gutiérrez, Juan Carlos. 2015. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. Case Reports in Dermatological Medicine،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058367
Modern Language Association (MLA)
Fernández-Ibieta, María& López-Gutiérrez, Juan Carlos. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. Case Reports in Dermatological Medicine No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1058367
American Medical Association (AMA)
Fernández-Ibieta, María& López-Gutiérrez, Juan Carlos. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. Case Reports in Dermatological Medicine. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058367
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058367