Journal of Ophthalmology & Clinical Research Category: Clinical Type: Case Report
An Exophthalmic Clinical Presentation of Cementomatous Fibrous Dysplasia in an Orbital Roof
- A’sha Brown1, Robert T Spector2, Myron Yanoff3*
- 1 Ophthalmology Residency Program, Drexel University College Of Medicine, Philadelphia, United States
- 2 Pediatric Ophthalmology, St. Christopher’s Hospital For Children, Drexel University College Of Medicine, Philadelphia, United States
- 3 Ophthalmology Department, School Of Medicine, University Of Pennsylvania, Drexel University College Of Medicine, Philadelphia, United States
*Corresponding Author:Myron Yanoff
Ophthalmology Department, School Of Medicine, University Of Pennsylvania, Drexel University College Of Medicine, Philadelphia, United States
Received Date: Apr 05, 2017 Accepted Date: May 12, 2017 Published Date: May 26, 2017
CLINICAL PRESENTATION AND DIAGNOSTIC IMAGING
Based on the operative report, the tumor was visible after removal of the orbital rim . The tumor was internally debulked confirming its intraosseous origin comprised of bone and soft tissue and sent for frozen and permanent sections . Debulking continued circumferentially until mass effect was released from the frontal lobe and orbit . The frontal sinus was exonerated by removing mucosa . The remaining orbital rim was thoroughly scraped with a curette to remove any additional tumor contents  (Figure 3).
Multiple attempts were made to call the patient with no response. Patient was lost to follow up after his visit in January 2016.
FD is a representation of elements of immature mesenchymal cells (osteoblasts) originating from mutated pluripotent embryonic cells failing to undergo differentiation and maturation [6,12]. Maurie et al., compared osteoblastic activity associated with increased Gsα mutation expression in 2 McCune-Albright Syndrome patients to a patient with a single monostotic FD lesion . Maurie et al., data showed that 30% higher intracellular cAMP, increased proliferation of osteoblastic cells, and lower osteocalcin production were all associated with the Gsα mutation in both monostotic and MAS dysplastic FD cells determining severity of the lesion . Upon gross examination, the lesion may appear gray or bluish gray, and have hemorrhagic or cystic regions composed of yellow serous fluid . Histologically, fibrous dysplasia typically encompasses an osseous component of immature woven bone composed of thin, irregularly shaped trabeculae termed as “alphabet soup” with absent osteoblastic rimming, while the fibrous component surrounds the osseous component with combination of collagen, myxoid, hemorrhagic and cystic components [6,8]. As was exemplified in our patient, there can be a cementifying variant, in which the mineralization is densely composed of concentric, laminated “cementoid” bodies providing the diagnosis of fibrous cementoma or cementomatous variant of fibrous dysplasia .
Radiographically, lesions can appear sclerotic in 35% of cases, mixed type in 40% of cases, and least commonly lytic . Computed Tomography (CT) is determined to be the most useful in evaluating craniofacial lesions . CT is the best imaging modality for idenitification of FD due to its bony origin, however Magnetic Resonance Imaging (MRI) is ideal for evaluation of orbital involvement . FD exhibits a “ground glass” appearance due to the woven bone and fibrous component with areas of sclerosis, centered primarily in the medullary canal with cortical expansion [6-8]. Occasionally, there can be areas of cartilaginous differentiation with ring or punctate calcifications, and if prominent, the diagnosis should be fibrocartilaginous dysplasia .
Fibrous dysplasia management includes observation if symptoms are minimal to assess for tumor growth, conservative debulking, or radical bony excision and reconstruction . Goisis et al., states that non-surgical approaches results in poor outcomes and surgical treatment is determined by substantial functional decline . Ricalde et al., emphasizes that observation is dependent upon location of the lesion(s), age of the patient, serial clinical examinations and patient’s opinion about surgery . Conservative debulking involves bone contouring with partial resection of localized areas of dysplasia, while radical excision would be supported in a situation of increased risk of malignant transformation, and optic nerve decompression reserved for lesions impinging the optic nerve [3,7]. Giosis et al., supports complete resection although it can be more debilitating regarding quality of life . According to Chen and Noordhoff’s Table of treatment protocol based on dysplasia location, facial area of Zone 1 involving the orbit necessitates radical excision and reconstruction with autogenous bone graft . Moore et al., reviewed sixteen children with orbitocranial fibrous dysplasia that underwent excision of the bony lesion, fifteen of which had craniofacial reconstruction . Orbital wall reconstruction requires precise modeling and alloplastic materials or autologous bone grafts, while orbital roof reconstruction requires separation of orbital contents from the frontal lobe . The focus of reconstruction is to restore contour symmetry, orbital volume, nasolacrimal integrity, and an intact cranial base and barrier .
Fibrous dysplasia is often present in children, and furthermore within the craniofacial bones causing ocular symptoms. Leong et al., presented a case report of a 12 year old Asian female with progressive visual loss from a right anterior skull base fibrous dysplasia causing extradural compression of the intracanalicular optic nerve requiring immediate optic nerve decompression with some post-operative visual recovery . Tabrizi et al., described a case of an 8 year old girl whom presented with right side swelling of her face and orbit displacement found to have right maxilla fibrous dysplasia involving the right orbital floor requiring immediate resection and reconstruction . Skorek et al., described an 8 year old boy with inferior orbital wall destruction secondary to fibrous dysplasia . Joseph et al., discussed a case of gradually progressive unilateral exophthalmos and inferolateral displacement of the right globe in a 9 month old infant whom was found to have an extraconal lesion in the superomedial portion of the right orbit with simultaneous destruction of the superomedial orbital wall and roof, histologically confirmed to be fibrous dysplasia .
For completion, ossifying fibromas should be included in the differential diagnosis for fibrous dysplasia. Ossifying fibromas are another common fibro-osseous tumor with very different histological components. An ossifying fibroma is characteristically a benign well demarcated fibro-osseous tumor with a sclerotic border typically occurring in the jaw and craniofacial bones with the paranasal sinuses being affected most often [6,18]. When involving the orbit they usually develop from the ethmoid region or superior orbital plate of the frontal bone . Clinical presentation in adults begins in the third to 4th decade of life, while the juvenile type can occur in children and young adults with no sexual predilection . Pathology depicts a well-circumscribed unilobular lesion with low to moderate cellularity with either one or both of two patterned mineralized bone growth: irregular bony trabeculae or psammomatoid pattern. Due to the aggressive growth of ossifying fibroma, it typically requires complete surgical resection, whereas fibrous dysplasia is slow growing and can be self-limited . Wakefield et al., presented the 2nd case of lateral orbital wall presentation of ossifying fibroma, while Sigler et al., presented a case of a 12 year old boy with cementifying fibroma originating in the maxillary, ethmoid, and frontal sinuses resulting in proptosis [19,20]. Fibrous dysplasia is often confused with ossifying fibroma due to similar clinical presentation.
As evidenced, fibrous dysplasia presentation is prominent in the bony orbit with common ocular manifestations in children of various ages ranging from exophthalmos, globe/orbit displacement, facial swelling, headaches/periorbital pain, epiphora and visual disturbance/loss [1,2,6,7,17,]. Literary evidence aptly confirms the importance of being clinically aware of the ocular manifestation of fibrous dysplasia in children of all ages. Early detection of this dysplastic disease process in the pediatric ophthalmologist office can allow for prompt imaging and surgical management of fibrous dysplasia involving the orbit.
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Citation:Brown A, Spector RT, Yanoff M (2017) An Exophthalmic Clinical Presentation of Cementomatous Fibrous Dysplasia in an Orbital Roof. J Ophthalmic Clin Res 4: 028.
Copyright: © 2017 A’sha Brown, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.