Korean J Pediatr.  2012 Jan;55(1):29-33. 10.3345/kjp.2012.55.1.29.

PHACE association with intracranial, oropharyngeal hemangiomas, and an atypical patent ductus arteriosus arising from the tortuous left subclavian artery in a premature infant

• Kim DH
• Choi JH
• Lee JH
• Kim HS

• KMID: 1433777
• DOI: http://doi.org/10.3345/kjp.2012.55.1.29

Abstract

PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.

Keyword

PHACE association; Central nervous system cavernous hemangioma; Patent ductus arteriosus; Premature infants

MeSH Terms

Aorta, Thoracic
Aortic Coarctation
Ductus Arteriosus, Patent
Eye
Eye Abnormalities
Hemangioma
Hemangioma, Cavernous, Central Nervous System
Humans
Infant
Infant, Newborn
Infant, Premature
Neurocutaneous Syndromes
Subclavian Artery
Aortic Coarctation
Eye Abnormalities
Neurocutaneous Syndromes