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BRIEF COMMUNICATION
Year : 2020  |  Volume : 8  |  Issue : 2  |  Page : 78-81

Craniofacial fibrous dysplasia with ipsilateral keratoconus


Department of Ophthalmology, King George's Medical University, Lucknow, Uttar Pradesh, India

Date of Submission19-Oct-2019
Date of Decision23-Dec-2019
Date of Acceptance07-Jan-2020
Date of Web Publication2-Jul-2020

Correspondence Address:
Siddharth Agrawal
Department of Ophthalmology, King George's Medical University, Lucknow, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcor.jcor_83_19

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  Abstract 


Fibrous dysplasia (FD) is a developmental dysplastic disorder of the bone, in which the normal matrix is replaced by fibroblastic proliferation. Keratoconus is usually an isolated sporadic disorder which may be associated with various ocular and systemic conditions. We report a case of ipsilateral keratoconus with craniofacial FD. Only a single such case has been reported in literature. An 18-year-old male patient presented to us with right eye (RE) proptosis and protrusion of the forehead and lateral skull associated with poor vision in the RE. He had earlier undergone conservative excision and recontouring for FD. Best-corrected visual acuity in the RE was counting fingers at 1 m and in the left eye was 20/20. Clinical signs of keratoconus were present in the RE. Corneal topography confirmed the diagnosis of keratoconus. The incidence of keratoconus in this case may be an independent finding or may be related to pressure on the globe due to expanding orbital walls.

Keywords: Corneal hydrops, corneal topography, fibrous dysplasia, keratoconus


How to cite this article:
Srivastava RM, Agrawal S. Craniofacial fibrous dysplasia with ipsilateral keratoconus. J Clin Ophthalmol Res 2020;8:78-81

How to cite this URL:
Srivastava RM, Agrawal S. Craniofacial fibrous dysplasia with ipsilateral keratoconus. J Clin Ophthalmol Res [serial online] 2020 [cited 2020 Nov 26];8:78-81. Available from: https://www.jcor.in/text.asp?2020/8/2/78/288852



Fibrous dysplasia (FD) was first reported over a century ago by Von Recklinghausen.[1] In 1938, Lichtenstein and Jaffe first introduced the term FD.[2] FD is a developmental dysplastic disorder of bone, in which the normal matrix is replaced by fibroblastic proliferation which contains irregular trabeculae of partially calcified osteoid.[3] It accounts for 2.5% of all bone tumors and 7.5% of benign bone neoplasms.[4] There is a predilection for membranous bones.

Keratoconus is usually an isolated sporadic disorder but can be associated with various ocular and systemic conditions such as Down's syndrome. Atopy, hard contact lens wear, and eye rubbing have also been associated with this condition.[5],[6] It is a bilateral condition, with only 2%–4% cases being unilateral.[7]

We report a case of craniofacial FD with ipsilateral keratoconus. To date, only a single such case has been reported (PubMed search).[8]


  Case Report Top


An 18-year-old male [Figure 1] referred to us from the plastic surgery department of our university with complaints of poor vision in the right eye (RE) for 9 years with associated progressive protrusion of the right globe, forehead, and lateral skull for 10 years.

The patient had a single episode of pain, redness, and watering from the RE 3 years back with formation of a central corneal opacity. There was a progressive diminution of vision in the RE since then. Associated complaints included difficulty in chewing and breathing from the right nostril.
Figure 1: Front profile of the patient showing extensive involvement of the facial bones with outward and upward displacement of the right eye

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He had undergone conservative excision and recontouring for biopsy-proven FD [Figure 2] 5 years back elsewhere. There was some cosmetic improvement after this surgery. The deformity of the facial bones had been increasing since then.
Figure 2: Histopathological examination (H and E stained) of the lesion showing irregular-shaped woven bone resembling membranous ossification. (×400 magnification)

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Medical, family, and allergic histories were unremarkable. There was no history of ocular or orbital trauma or inflammation. The patient did not wear contact lenses or rub his eyes frequently.

Systemic examination was normal. Local examination showed obvious deformity of the right side of the face [Figure 1] due to bony swellings. Best-corrected visual acuity in the RE was counting fingers at 1 m and in the left eye (LE) was 20/20 (0.0 logMar). The right globe was displaced 5 mm upward and 9 mm outward with a 15-mm proptosis. Ocular movements of both eyes (BE) were full.

The right cornea revealed a positive Munson's sign [Figure 3]a on down gaze. Slit-lamp examination of the RE revealed corneal ectasia [Figure 3]b, central corneal scarring with stromal edema [Figure 3]c, and prominent corneal nerves. The anterior chamber was deep. Pupillary reactions, lens, and fundi were normal in BE. Syringing revealed a partial block of the lacrimal passage on the right side. Intraocular pressure measured by Goldmann applanation tonometer was 14 mmHg in BE. Measurements in the RE were variable due to central corneal scarring.
Figure 3: (a) Photograph showing Munson's sign (b) and corneal ectasia (c) slit-lamp photograph showing central corneal scarring

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The patient underwent computed tomography (CT) scan of the head and orbit which showed a well-defined, mixed-density expansion of medullary spaces with thinning of the cortex of bilateral frontal, right parietal, ethmoid, mandibular, and maxillary bones. Both wings and body of the sphenoid were involved. Complete obliteration of the right maxillary antrum and nasal cavity was noted [Figure 4]. Corneal topography done (Pentacam®, OCULUS Optikgeräte GmbH, Wetzlar, Germany) revealed a K1 value of 56.5 D at 178° and K2 of 63.1 D at 88° in the RE. The LE was normal [Figure 5]. The topography revealed variable readings in the RE due to poor fixation and corneal scarring. The patient was not willing for any surgical intervention due to personal reasons.
Figure 4: Computed tomography scan (sagittal section) showing mixed-density expansion of medullary spaces (ground-glass appearance) and thinning of the cortex involving bilateral frontal, right parietal, ethmoid, mandibular, and maxillary bones. Both wings and body of the sphenoid were involved

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Figure 5a: Corneal topography by Pentacam (Oculus Inc., Germany) showing corneal ectasia with K1 56.5 D at 178° and K2 63.1 D at 88°. The cornea is steepest centrally with a K value of 65.1 D. Increased corneal thickness in pachymetry map and irregular back surface elevation are due to corneal edema and scarring (right eye)

Figure 5b: Normal topographic pattern (left eye)


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  Discussion Top


FD is an uncommon, nonfamilial disorder of bones, which usually manifests in childhood and progresses throughout adolescence and is found equally in both sexes. The most common clinical presentations of FD are swelling and deformity of the affected site.[9]

Unilateral keratoconus is a rare entity (2%–4%) although corneal topographic analysis reveals that true cases of unilateral keratoconus are much less.[7]

Our patient had involvement of craniofacial bones including bilateral frontal, entire sphenoid, and right parietal, ethmoid, mandible, and maxilla. This extensive involvement was responsible for the considerable facial deformity, proptosis, and nasal and nasolacrimal duct obstruction on the right side. Analysis of history revealed onset of FD 10 years back, which was treated by a conservative surgery with limited success. A more aggressive surgery as is recommended, would have probably prevented recurrence.[10] It was found that the ocular involvement started at 9 years of age, with hydrops and subsequent scarring occurring 3 years back. The epiphora and blockage of the nose were due to involvement of the midfacial bones.

Literature search (PubMed) reveals only a single report showing the association between FD and ipsilateral keratoconus.[8] Another case showing the association between orbital hemangioma and ipsilateral keratoconus had been reported in 1980.[11] These studies postulated that the development of ipsilateral keratoconus is secondary to the mechanical pressure exerted on the globe by the walls of the orbit. Stromal fibrils, which run limbus to limbus and have circumferential stability at the limbus, appear to be relatively inextensible; however, various methods of intrafibrillar biomechanically coupled curvature transfer have been described, which might also explain keratoconus development secondary to the external globe pressure and displacement.[12] The same etiology of unilateral keratoconus in our patient cannot be ruled out.

The onset of keratoconus usually occurs at puberty. Earlier age of onset in our patient also supports slowly increasing mechanical pressure as a causative factor. Notably, other associations such as contact lens wear, trauma, and eye rubbing were absent.

The usual cause of poor vision in patients with FD is optic nerve compression in its intracanalicular part. The optic canal in our patient was normal in spite of the extensive involvement of the sphenoid. Radiologically, FD is described as having typical ground-glass appearance because of an admixture of fibrous and osseous elements. CT scan of our patient revealed typical ground-glass appearance with radiolucent mixed lesions involving multiple craniofacial bones.

Our patient had been planned for excision with recontouring and reconstruction. However, the patient refused further intervention for personal reasons.

This is only the second reported case of keratoconus in a patient with craniofacial FD. The ipsilateral keratoconus is likely to be due to mechanical globe compression but may also be an independent association.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Von Recklinghausen FD. Die Fibrose Oder Deformierende Ostitis, die Osteomalacie und die Osteoplastische Carcinose in Ihren Gegenseitigen Beziehungen. Berlin: Festschr, Rudolf Virchow; 1891.  Back to cited text no. 1
    
2.
Lichtenstein L, Jaffe HL. Fibrous dysplasia of bone: A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol 1942;33:777.  Back to cited text no. 2
    
3.
Osguthorpe JD, Gudeman SK. Orbital complication of fibrous dysplasia. Otolaryngol Head Neck Surg 1987;97:403.  Back to cited text no. 3
    
4.
Edgerton MT, Persing JA, Jane JA. The surgical treatment of fibrous dysplasia. With emphasis on recent contributions from cranio-maxillo-facial surgery. Ann Surg 1985;202:459-79.  Back to cited text no. 4
    
5.
Hartstein J. Keratoconus that developed in patients wearing corneal contact lenses. Report of four cases. Arch Ophthalmol 1968;80:345-6.  Back to cited text no. 5
    
6.
Krachmer JH, Feder RS, Belin MW. Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol 1984;28:293-322.  Back to cited text no. 6
    
7.
Holland DR, Maeda N, Hannush SB, Riveroll LH, Green MT, Klyce SD, et al. Unilateral keratoconus. Incidence and quantitative topographic analysis. Ophthalmology 1997;104:1409-13.  Back to cited text no. 7
    
8.
Liarakos VS, Ilari L, Chalvatzis N, Papaparaskeva K, Mavrikakis I. Isolated orbital fibrous dysplasia associated with ipsilateral keratoconus. Orbit 2010;29:154-7.  Back to cited text no. 8
    
9.
Moore AT, Buncic JR, Munro IR. Fibrous dysplasia of the orbit in childhood. Clinical features and management. Ophthalmology 1985;92:12-20.  Back to cited text no. 9
    
10.
Chen YR, Noordhoff MS. Treatment of craniomaxillofacial fibrous dysplasia: How early and how extensive? Plast Reconstr Surg 1990;86:835-42.  Back to cited text no. 10
    
11.
Hornblass A, Sabates WI. Eyelid and orbital cavernous hemangioma associated with keratoconus. Am J Ophthalmol 1980;89:396-400.  Back to cited text no. 11
    
12.
McMonnies CW, Schief WK. Biomechanically coupled curvature transfer in normal and keratoconus corneal collagen. Eye Contact Lens 2006;32:51-62.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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