Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome
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 br...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Dermatological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/487562 |
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| author | María Fernández-Ibieta Juan Carlos López-Gutiérrez |
| author_facet | María Fernández-Ibieta Juan Carlos López-Gutiérrez |
| author_sort | María Fernández-Ibieta |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-74c312bcb36b4815ab08a2914fe9b30c |
| institution | Kabale University |
| issn | 2090-6463 2090-6471 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Dermatological Medicine |
| spelling | doaj-art-74c312bcb36b4815ab08a2914fe9b30c2025-02-03T05:46:07ZengWileyCase Reports in Dermatological Medicine2090-64632090-64712015-01-01201510.1155/2015/487562487562Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE SyndromeMaría Fernández-Ibieta0Juan Carlos López-Gutiérrez1Pediatric Surgery Service, Hospital CU Virgen de la Arrixaca, El Palmar s/n, 30150 Murcia, SpainVascular Anomalies Unit, Pediatric Surgery Department, Hospital La Paz, Madrid, SpainPHACE 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.http://dx.doi.org/10.1155/2015/487562 |
| spellingShingle | María Fernández-Ibieta Juan Carlos López-Gutiérrez Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome Case Reports in Dermatological Medicine |
| title | Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome |
| title_full | Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome |
| title_fullStr | Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome |
| title_full_unstemmed | Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome |
| title_short | Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome |
| title_sort | lymphatic malformation retinoblastoma or facial cleft atypical presentations of phace syndrome |
| url | http://dx.doi.org/10.1155/2015/487562 |
| work_keys_str_mv | AT mariafernandezibieta lymphaticmalformationretinoblastomaorfacialcleftatypicalpresentationsofphacesyndrome AT juancarloslopezgutierrez lymphaticmalformationretinoblastomaorfacialcleftatypicalpresentationsofphacesyndrome |