PHACE syndrome: A case report
Keywords:
PHACE syndrome, infantile hemangioma, propranololAbstract
PHACE syndrome is relatively uncommon neurocutaneous disorder. It is an acronym which refers to posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities and eye anomalies. We report a case of five-month-old female infant with large segmental facial hemangioma and posterior fossa anomaly. Magnetic resonance imaging (MRI) scan of head and neck region with contrast revealed mixed type infantile hemangioma, hypoplastic right cerebellum and enlarged posterior fossa with CSF space. We treated the patient with propranolol 1mg/kg once daily and regular follow-ups were maintained and definite improvement was seen.References
Frieden IJ, Reese V, Cphen D. PHACE syndrome: the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996;132:307-11.
Metry DW, Siegel DH, Cordisco MR, Pope E, Prendiville J, Drolet BA et al. A comparison of disease severity among affected male versus female patients with PHACE syndrome. J Am Acad Dermatol 2008;58:81-7.
Merty DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Grazon M et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings and complications. Am J Med Genet. 2006;140:975-86.
Merty DW, Heyer G, Hess C, Grazon M, Haggstorm A, Frommelt P et al. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 2009;124:1447-56.
Keswani T, Sharma V, Barnes J. Wyburn-Mason syndrome: a case report. Int Ophthalmol. 2008;28:437-38.
Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics. 1985;76:48-51.
Denzer F, Denzer C, Lenners BS, Bode H, Wabitsch M. A case of PHACE syndrome and acquired hypopituitarism. Int J Pediatr Endocrinol. 2012;1:20-1.
Sripornsawan P, Chotsampansharoen T, Kritsaneepaiboon S. Successful treatment of PHACE syndrome with oral propranolol. J Hematol Transfus Med. 2015;25:55-60.
Patil SJ, Moray AA, Kiran VS, Battu RR. PHACE/S syndrome: A syndrome infantile segmental hemangioma. Indian J Paed. 2010;77:911-3.
