An Exophthalmic Clinical Presentation of Cementomatous Fibrous Dysplasia in an Orbital Roof

Abstract

or polyostotic in nature [1][2][3]. When presenting in the craniomaxillofacial region, specifically the orbit, it can cause painless bony enlargement producing ocular manifestations of exophthalmos, deformity, and visual problems. Neuroimaging is essential to identify the extent of bony involvement. Fibrous dysplasia should be high on the differential for a pediatric ophthalmologist as it typically presents in the first 3 decades of life. Malignant transformation is unlikely in children, but FD can cause visual loss especially when involving compression of the optic nerve. There have been no previously reported findings of a cytogenetic or genetic mutation associated with monostotic fibrous dysplasia lesions. Clinical Presentation and Diagnostic ImagingA 10-year-old boy presented to the St. Christopher's Hospital for Children Ophthalmology Department in Philadelphia, PA in October 2015 as a new patient. The chief complaint was a protruding right eye noted by the patient and his parents. The right exophthalmos had been occurring over a 3-month period. Upon arrival to the ophthalmology department, the patient was immediately sent to the Neurosurgery department with notification that the patient had slowly progressing proptosis of his right eye in need of Neuroimaging (Figures 1 and 2). Brown A, et al., J Ophthalmic Clin Res 2017, 4 AbstractA 10-year-old boy with no prior ocular complaints presented to the St. Christopher's Hospital for Children in Philadelphia with slowly progressing right eye proptosis. Computed tomography and magnetic resonance imaging of the head and brain showed a right orbital roof intraosseous mass displacing the superior rectus muscle, causing right exophthalmos. Debulking of the lesion was performed. Pathology diagnosed cementomatous variant of fibrous dysplasia with a genetic component of loss of chromosomal segments at XQ and 2Q, specifically 2q33.1 and Xq26.3q27.1. Chromosomal losses at Xq26 and 2q33 were described in three cases of cemento-ossifying fibromas by Sawyer et al., in 1995. We provide supporting evidence for a possible cytogenetic relationship between Xq26 and 2q33 chromosomal losses and the occurrence of fibro-osseous lesions. Based on the patient's history, ocular and histological examination, exophthalmos occurred in this patient due to orbital roof cementomatous variant of fibrous dysplasia. To the best of our knowledge, there have been no previously reported cases or cytogenetic findings associated with a cementomatous variant of fibrous dysplasia in the orbital roof. Figures 2A & 2B: MRI described the mass with similar measurements to have a 1.5 cm multi-septated, cystic-fluid filled, necrotic center with mass effect on the inferior frontal lobe while flattening and inferiorly displacing the superior rectus muscle of the right globe, causing the noted proptosis. The right globe and optic nerve were intact in both CT and MRI. Differential diagnosis based on imaging was fibrous dysplasia, rhabdomyosarcoma, Langerhans cell histocytosis and Lymphoma/Leukemia. The patient...