|Year : 2016 | Volume
| Issue : 2 | Page : 133-135
Atypical presentation of craniofacial fibrous dysplasia in an adult
Padma B Prabhu, Swetha Mediyala Hanumappa, Kuzupally Vallon Raju
Department of Ophthalmology, Government Medical College, Kozhikode, Kerala, India
|Date of Web Publication||30-Jun-2016|
Padma B Prabhu
Department of Ophthalmology, Government Medical College, Kozhikode - 673 008, Kerala
Source of Support: None, Conflict of Interest: None
Fibrous dysplasia is a sporadic fibroosseous anomaly affecting the skeletal system. Craniofacial synostosis is one of its subtypes with ocular complications. We report a case of craniofacial fibrous dysplasia in a 44-year-old lady who presented with complaints of recent onset of blurring of vision in both eyes. She gave a history of swelling in the medial aspect of left eye since childhood with minimal increase in size with age. A bony swelling was seen along the medial wall of left orbit associated with deviated nasal septum to the right. She had best corrected visual acuity (BCVA) of 20/20 in eyes, normal color vision, visual fields and fundus findings. Her computed tomography (CT) scan was suggestive of fibrous dysplasia involving multiple bones (frontal, sphenoid, ethmoid, maxillary, and pterygoid bones) bilaterally. Visual evoked potential was abnormal bilaterally.
Keywords: Craniofacial fibrous dysplasia, monostotic, optic neuropathy, polyostotic
|How to cite this article:|
Prabhu PB, Hanumappa SM, Raju KV. Atypical presentation of craniofacial fibrous dysplasia in an adult. Muller J Med Sci Res 2016;7:133-5
|How to cite this URL:|
Prabhu PB, Hanumappa SM, Raju KV. Atypical presentation of craniofacial fibrous dysplasia in an adult. Muller J Med Sci Res [serial online] 2016 [cited 2022 Jun 26];7:133-5. Available from: https://www.mjmsr.net/text.asp?2016/7/2/133/185015
| Introduction|| |
Fibrous dysplasia is a nonhereditary benign fibroosseous anomaly of the bones. It has two basic clinical forms, namely monostotic and polyostotic forms. Craniofacial variety of fibrous dysplasia is a polyostotic variant. The involvement of optic nerve due to its close proximity to facial bones is an eventuality in fibrous dysplasia.
| Case Report|| |
A 44-year-old lady presented with complaints of painless gradual defective vision in both eyes for 4 months. She had a history of swelling in the left eye since 20 years, without marked increase in size over the years [Figure 1]. There were no similar swellings in the body nor were there neurocutaneous markers. None of her family members were affected. Clinical examination revealed ill-defined bony thickening along the medial wall, floor, and roof of left orbit with dystopia. Extraocular movements were full bilaterally. Her best corrected visual acuity (BCVA) was 20/20, color vision was normal, visual fields were full, and posterior segment was within normal limits both eyes. Recent onset of personality disturbances, recent memory loss, and emotional instability were noted by her close relatives.
Neuroimaging [computed tomography (CT) scan orbit with paranasal sinuses] showed expansile mixed density; predominantly sclerotic lesion involving left side of frontal bone as well as adjacent greater and lesser wings of sphenoid, ethmoid, lateral wall of left maxillary sinus, and pterygoid plate. Right orbital margins were expanded with reduction in the orbital space [Figure 2]. These findings were suggestive of bilateral fibrous dysplasia. On comparison with the previous CT scan report that was taken 4 years back, no significant progression in the lesion size and extent was observed. Visual evoked potential (VEP) was indicative of optic nerve dysfunction in the form of prolonged p100 latency and low amplitude in both eyes. Screening of her two children (males) revealed deviated nasal septum and increased thickness of maxillary bone in her youngest son of 19 years [Figure 3].
|Figure 3: X-ray PNS of the patient's son revealing thickness of maxillary bone|
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| Discussion|| |
Fibrous dysplasia is characterized by aberrant maturation of woven bones. Globally, fibrous dysplasia constitutes about 2.5% of all bone tumors and 7.5% of all benign neoplasms involving skeletal system. , There are two clinical forms. The monostotic variant is more prevalent (6-10 fold) than the polyostotic type.  It can affect any bone in the body. The polyostotic form has an earlier onset, typically in childhood. The affected patients tend to have more severe skeletal and craniofacial involvement.  Malignant transformation occurs in 0.5-1%. The bones frequently involved are ethmoid (71%), maxilla (81%), and frontal (64.3%) bones. , The polyostotic variant of craniofacial fibrous dysplasia is usually unilateral.  There is no gender predilection for the disease.  However, in a large series by Kruse et al., female preponderance has been reported.  The age of onset is described as first three decades of life. The lesional size increases till skeletal maturity.  The mode of inheritance is not defined. Autosomal dominant with X-influenced expression, X-linked dominant, and mitochondrial inheritance have been suggested as the probable mode of inheritance. Facial deformity is a common presenting feature.  The symptoms are site specific such as defective vision, proptosis, dystopia, ocular motility problems, nasal blockade, and focal neurological deficits (such as behavioral abnormalities and focal seizures).  Optic nerve compression is the most dreaded ophthalmic complication of craniofacial fibrous dysplasia. It can occur due to mechanical compression or ischemia. Optic canal narrowing does not imply functional deterioration in visual acuity. Many a times, functional visual loss can precede radiological evidence of optic nerve compression. Investigation, such as VEP, can be of great value in such a context. 
Conservative management with watchful expectancy is the standard of care in cases without cosmetic or functional disability. Indications for debulking include visual deterioration, neurological complications, globe malposition, and gross facial deformity. Treatment options include medical debulking using bisphosphonates and surgical resection.  Cranioorbital shaping is tried when complete removal is not possible. 
Our case is unique in its bilateral asymmetrical presentation, late onset of the disease, and inheritance as evidenced by the presence of the disease in her son, involvement of multiple orbital bones, and abnormal VEP with focal neurological deficits (personality disturbances and memory loss) despite the nonprogression of the bony anomaly in neuroimaging.
| Conclusion|| |
Fibrous dysplasia, especially of craniofacial polyostotic variety, is of ophthalmological importance due to the involvement of optic nerve and orbital contents. A high index of suspicion and constant vigilant follow-up is mandatory in preventing blindness due to this disease. Investigations, such as VEP, are helpful in documenting progression even before the appearance of radiological changes. Genetic studies are indicated in better understanding of this rare entity.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]