Otolaryngologic manifestations of PHACE syndrome.
Two case reports of PHACE syndrome (posterior fossa malformations (P), hemangiomas (H), arterial anomalies (A), coarctation of the aorta and cardiac defects (C), and eye abnormalities (E)) are presented. Clinical characteristics consisted of cutaneous and airway hemangiomas, aortic coarctation, and left superior vena cava in one child and cutaneous and airway hemangiomas, sternal clefting, and supraumbilical raphe in the other child. Treatment modalities included systemic and intralesional steroids for cutaneous and airway hemangiomas, submucosal resection and laryngotracheal reconstruction for airway hemangiomas, repair of aortic coarctation, and laser treatment of cutaneous hemangiomas. PHACE syndrome poses a significant potential for airway compromise from hemangiomas, which may require multimodality treatment.
Department of Otolaryngology-Head and Neck Surgery, Doernbecher Children's Hospital, Oregon Health Science University, 3181 S.W. Sam Jackson Park Road, Portland, OR 97239-3098, USA.
Dana S
DS
Smith
Ken K
KK
Lee
Henry A
HA
Milczuk
D000015:Abnormalities, Multiple; D005260:Female; D006330:Heart Defects, Congenital / Q000209:etiology / Q000628:therapy; D006391:Hemangioma / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007822:Laryngeal Neoplasms / Q000209:etiology* / Q000628:therapy; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000628:therapy; D012878:Skin Neoplasms / Q000209:etiology / Q000628:therapy; D013249:Sternum / Q000002:abnormalities; D014472:Umbilicus / Q000002:abnormalities