Orbital hemangioma with intracranial vascular anomalies and hemangiomas: A new presentation of PHACE syndrome? Journal Article


Authors: Antonov, N. K.; Spence-Shishido, A.; Marathe, K. S.; Tlougan, B.; Kazim, M.; Sultan, S.; Hess, C. P.; Morel, K. D.; Frieden, I. J.; Garzon, M. C.
Article Title: Orbital hemangioma with intracranial vascular anomalies and hemangiomas: A new presentation of PHACE syndrome?
Abstract: We present two cases of infants with a similar constellation of clinical findings: retro-orbital infantile hemangioma (IH), internal carotid artery (ICA) arteriopathy, and intracranial IH. In both cases, intracranial vascular anomalies and hemangiomas were found incidentally during evaluation of unilateral proptosis. Neither infant had evidence of cutaneous segmental IH of the face or neck, which might have provided a clue to the diagnosis of PHACE syndrome or of intracranial hemangiomas. In one case, intracranial involvement was particularly extensive and function threatening, with mass effect on the brain parenchyma. These cases serve to highlight the fact that clinical findings of proptosis, globe deviation, and strabismus should prompt immediate imaging to confirm the presence of orbital IHs and to exclude other diagnoses. Moreover, based on our cases and the embryologic origin of the orbit as a unique developmental unit, patients with confirmed retro-orbital IHs should undergo evaluation for anomalies associated with PHACE syndrome. Patients with orbital IHs and an additional major criterion for PHACE syndrome should be considered to have definite, and not just possible, PHACE syndrome. © 2015 Wiley Periodicals, Inc.
Keywords: clinical feature; histopathology; case report; neuroimaging; nuclear magnetic resonance imaging; tumor localization; computer assisted tomography; tumor volume; doppler echography; hospitalization; brain; infant; echography; clinical evaluation; neck; orbit edema; echocardiography; face; magnetic resonance angiography; ophthalmology; eye examination; heart ventricle septum defect; exophthalmos; orbit; carotid artery disease; propranolol; orbit disease; capillary hemangioma; infratemporal fossa; strabismus; human; female; priority journal; article; amblyopia; anisometropia; artery dysplasia; brain hemangioma; cerebrovascular malformation; heart left right shunt; internal carotid artery hypoplasia; phace syndrome
Journal Title: Pediatric Dermatology
Volume: 32
Issue: 6
ISSN: 0736-8046
Publisher: Blackwell Scientific Publications  
Date Published: 2015-11-01
Start Page: e267
End Page: e272
Language: English
DOI: 10.1111/pde.12695
PROVIDER: scopus
PUBMED: 26446288
DOI/URL:
Notes: Article -- Export Date: 7 January 2016 -- e267 -- Source: Scopus
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