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.
authors.affiliation: Transitional Year Program, Memorial Sloan-Kettering Cancer Center, New York, New York.
authors.forename: Nina K
authors.initials: NK
authors.lastname: Antonov
authors.affiliation: Department of Dermatology, University of California at San Francisco, San Francisco, California.
authors.forename: Allyson
authors.initials: A
authors.lastname: Spence-Shishido
authors.affiliation: Department of Dermatology, Children's National Medical Center, Washington, District of Columbia.
authors.forename: Kalyani S
authors.initials: KS
authors.lastname: Marathe
authors.affiliation: Department of Dermatology, Columbia University, New York, New York.
authors.forename: Brook
authors.initials: B
authors.lastname: Tlougan
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York.
authors.forename: Michael
authors.initials: M
authors.lastname: Kazim
authors.affiliation: Departments of Pediatrics, Columbia University, New York, New York.
authors.forename: Sally
authors.initials: S
authors.lastname: Sultan
authors.affiliation: Departments of Radiology and Biomedical Imaging, University of California at San Francisco, San Francisco, California.
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Hess
authors.affiliation: Department of Dermatology, Columbia University, New York, New York.|Departments of Pediatrics, Columbia University, New York, New York.
authors.forename: Kimberly D
authors.initials: KD
authors.lastname: Morel
authors.affiliation: Department of Dermatology, University of California at San Francisco, San Francisco, California.|Department of Pediatrics, University of California at San Francisco, San Francisco, California.
authors.forename: Ilona J
authors.initials: IJ
authors.lastname: Frieden
authors.affiliation: Department of Dermatology, Columbia University, New York, New York.|Departments of Pediatrics, Columbia University, New York, New York.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Garzon
mesh_terms: D001017:Aortic Coarctation / Q000175:diagnosis* / Q000188:drug therapy; D002343:Carotid Artery, Internal / Q000473:pathology; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D006391:Hemangioma / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000188:drug therapy; D009918:Orbital Neoplasms / Q000175:diagnosis* / Q000188:drug therapy; D011433:Propranolol / Q000627:therapeutic use; D014665:Vasodilator Agents / Q000627:therapeutic use
chemical_list: D014665:Vasodilator Agents; D011433:Propranolol