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Teenager presents with unilateral proptosis
The patient experienced mild vision changes, intermittent tearing and right-sided nasal congestion.
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The Ophthalmology service was consulted to evaluate a 14-year-old girl in the emergency department with unilateral proptosis. For 3 months she was symptomatic with progressive right-sided nasal congestion, and in the 2 weeks before presentation, she noted right eye tearing. She became concerned when she noticed her right eye “bulging,” and her parents brought her to the emergency department. She reported mild, vague changes in her vision as well as intermittent tearing, but she denied blurry vision, double vision, color desaturation, eye pain or pain with eye movements.
She was a healthy girl with a normal birth history, her vaccinations were up to date, and she had no significant medical or ocular history. She had no allergies and did not take any medications. Her family history included type 2 diabetes and hypertension. She was otherwise in her usual state of good health, and her review of systems was negative for fevers, night sweats, weight loss, nosebleeds and headaches. She had a pet bird, had not traveled recently, denied using nasal sprays, neti pots and humidifiers, and denied alcohol, tobacco and illicit drug use.
Examination
On examination, the patient was afebrile and hemodynamically stable. Visual acuity without correction at near was 20/20 in each eye. Pupils were equally round and reactive to light with no afferent pupillary defect. IOP was within normal limits in both eyes. On Hertel exophthalmometry, she had 5 mm of relative proptosis of her right eye with measurements of 21 mm in the right eye and 16 mm in the left eye (Figure 1). Color vision and confrontation to visual fields were both full in each eye. She was orthotropic in all fields of gaze with full extraocular motility in each eye.
External exam demonstrated trace erythema of the right lower eyelid, but she had no edema or ecchymosis (Figure 2). There were no palpable periorbital lesions. She had 1.5 mm of inferior scleral show of her right eye. Anterior segment exam was normal with white and quiet conjunctiva and no evidence of inflammation. On dilated fundoscopy, the optic discs were healthy-appearing without edema, pallor or atrophy, and the retinal exam was unremarkable.
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Images: Lewen M, Chen V
Unilateral proptosis
The differential diagnosis for unilateral proptosis in a child includes infectious, inflammatory and neoplastic etiologies as well as other structural lesions or malformations.
Infectious orbital disease is a common cause of proptosis in children and usually occurs secondary to sinus disease. Orbital cellulitis, however, is generally acute in onset and includes marked pain, eyelid erythema, conjunctival injection and possible optic nerve involvement. Allergic fungal sinusitis is a chronic process in immunocompetent individuals, usually children, involving an allergic response to inhaled environmental fungi. This leads to edema of the nasal tissue, thick mucus production and sinus obstruction. Fungus proliferation within the obstructed sinus results in further mucus production, and the subsequent collection can become large enough to compress or erode through the orbital bones, causing displacement of the globe without the intense infectious-inflammatory response typically seen with bacterial orbital cellulitis.
While more commonly observed in adults, inflammatory conditions such as thyroid eye disease and idiopathic orbital inflammatory syndrome (orbital pseudotumor) can also occur in children. However, the patient’s white and quiet eye with full motility made these conditions less likely. Other structural lesions such as dermoid cysts, lymphangioma and mucocele should also be considered.
Neoplastic processes are rare but must be considered in a child presenting with new-onset proptosis. Rhabdomyosarcoma is the most common primary malignancy involving the orbit in children, with the majority of cases occurring within the first decade of life. Classically, these tumors originate in a superonasal location, causing downward and outward displacement of the globe. Lymphoma and leukemia are common cancers in the pediatric population and can involve the orbit secondarily. Furthermore, neuroblastoma and Ewing’s sarcoma have a known propensity to metastasize to the orbit. Other neoplasms to consider include Langerhans cell histiocytosis, meningioma, optic nerve glioma and benign connective tissue lesions such as fibrous dysplasia and juvenile ossifying fibroma.
Diagnosis and management
Otolaryngology also evaluated the patient in the emergency department. On nasal endoscopy, the left nasal cavity could not be visualized due to leftward bowing of the nasal septum. The right nasal cavity was remarkable for a flesh-like lesion originating from the right middle meatus with mass effect on the nasal septum. CT scan of the maxillofacial bones, sinuses and orbits revealed a large heterogeneous mass centered in the nasal cavity with bony remodeling of the lamina papyracea and floor of the right orbit (Figure 3). The mass also extended into the right frontoethmoidal and sphenoethmoidal recesses.
The patient was admitted for further workup, including pediatric hematology-oncology consultation, blood work and nasal endoscopy with biopsy. Dentistry was also consulted to remove the patient’s braces to allow for MRI to better visualize the mass and its involvement of the skull base in preparation for excision.
Her blood counts, thyroid studies, metabolic panel and first-line tumor markers such as alpha-fetoprotein were all within normal limits. Her exam with hematology-oncology revealed no other features concerning for systemic malignancy. MRI with gadolinium re-identified the mass with measurements of 4.4 cm × 3.8 cm × 4.4 cm, which is approximately the size of a golf ball. Dehiscence of the right cribriform plate and fovea ethmoidalis and adjacent dural enhancement within the anterior cranial fossa was concerning for possible early intracranial extension (Figure 4). Histopathology of the biopsy demonstrated cellular fibrous stroma with globular calcified psammomatoid bodies, numerous giant cells and myxomatous foci (Figure 5). Immunohistochemical stains were positive for vimentin and negative for S100, desmin, smooth muscle actin and CD34, among others. A final diagnosis of psammomatoid ossifying fibroma was made.
The patient underwent complete excision using a hemi-midface degloving approach with maxillotomy. The tumor was accessed by removal of the nasomaxillary buttress, which was then fixed to a miniplate and repositioned after the tumor was resected. At the time of resection, there was no evidence of intracranial extension. Dacryocystorhinostomy with nasolacrimal duct stenting was also performed because the right nasolacrimal duct appeared obliterated on imaging and obstruction was suspected based upon preoperative epiphora.
At her most recent follow-up visit, more than 1 year after resection, our patient is doing very well. Her nasal congestion and epiphora have resolved. She has 2 mm of enophthalmos on the right side, but she has no double vision in all gaze directions and her palpebral fissures are symmetric bilaterally. Her latest MRI and endoscopy showed post-surgical changes but no evidence of tumor recurrence (Figure 6).
Discussion
Juvenile ossifying fibroma is a benign fibro-osseous neoplasm, and the WHO classifies two variations of this rare lesion: psammomatoid ossifying fibroma and trabecular ossifying fibroma. The literature consists mostly of case reports and brief reviews, but psammomatoid ossifying fibromas generally occur within the first two decades. They are benign tumors of the craniofacial skeleton and are derived from mesoderm. Normal bone is replaced by fibroblasts, and the lesions become comprised of fibrous tissue, osteoid and mineralized material and can grow rapidly. Hemorrhage can occur within the lesion, and a fibrous or bony capsule is often present. Fibrous dysplasia, conversely, usually blends with adjacent normal bone and is not contained within a capsule. Histopathologically, ossifying fibromas contain cellular pleomorphism and mitotic figures; however, atypical mitoses, anaplasia and necrosis are not observed, which is consistent with the benign nature of these tumors. Psammomatoid ossifying fibromas are also characterized by spherical ossicles set in fibrous tissue, which resemble the psammoma bodies of meningiomas.
Psammomatoid ossifying fibromas most commonly arise in the bony walls of the paranasal sinuses; however, they have also been reported to originate from the calvarium, maxilla and mandible. Growth is generally aggressive but often painless, and these tumors can disrupt adjacent structures or extend into the orbit and anterior skull base. Proptosis is the most common presenting symptom, and others include headaches, facial swelling, recurrent sinusitis, nasal obstruction or decreased vision. These lesions are characteristically heterogeneous and multilocular in appearance on CT or MRI.
Definitive treatment involves complete excision, which can be challenging given the proximity to the skull base and orbit. Recurrence rates range from 30% to 56% and are due to incomplete excision. Psammomatoid ossifying fibromas are resistant to radiation therapy, and adjuvant chemotherapy is not recommended. There are no documented cases of metastasis. Long-term follow-up with serial imaging is advised.
- References:
- Figueiredo LM, et al. Oral Maxillofac Surg. 2014;doi:10.1007/s10006-013-0400-y.
- Harris MS, et al. JAMA Otolaryngol Head Neck Surg. 2014;doi:10.1001/jamaoto.2014.257.
- Ranganath K, et al. J Maxillofac Oral Surg. 2014;doi:10.1007/s12663-013-0479-6.
- Smith SF, et al. J Oral Maxillofac Surg. 2009;doi:10.1016/j.joms.2007.12.009.
- For more information:
- Michael Lewen, MD, and Vicki Chen, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Jessica Moon, MD, and Emily C. Wright, MD. They can be reached at the New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.