Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

Pediatr Dermatol. 2015 Nov-Dec;32(6):e267-72. doi: 10.1111/pde.12695. Epub 2015 Oct 8.

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.

Publication types

  • Case Reports

MeSH terms

  • Aortic Coarctation / diagnosis*
  • Aortic Coarctation / drug therapy
  • Carotid Artery, Internal / pathology
  • Diagnosis, Differential
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / drug therapy
  • Female
  • Hemangioma / diagnosis*
  • Hemangioma / drug therapy
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Neurocutaneous Syndromes / diagnosis*
  • Neurocutaneous Syndromes / drug therapy
  • Orbital Neoplasms / diagnosis*
  • Orbital Neoplasms / drug therapy
  • Propranolol / therapeutic use
  • Vasodilator Agents / therapeutic use

Substances

  • Vasodilator Agents
  • Propranolol

Supplementary concepts

  • PHACE association