case report

A Variant of Monostotic Craniofacial Type of Fibrous Dysplasia A Rare Case Report

Vennila P*, Chandrasekar T**, Sheetal S Menon

Abstract
Fibrous dysplasia is an uncommon, sporadic skeletal disorder characterized by proliferation with secondary bony metaplasia, producing immature, newly formed and weakly calcified bone, without maturation of osteoblasts, typically presenting in first or second decade of life and then slowly progressing until the patient reaches the age of thirty years. The aim of this presentation is to represent a rare case of monostotic craniofacial fibrous dysplasia, in a 55 year old male, which is a good example of somatic mosaicism in which a wide spectrum of disease is possible. Key words: Fibrous dysplasia, sporadic, metaplasia, osteoblasts, monostotic, somatic mosaicism

ibrous dysplasia is a bone development anomaly characterised by hamartoma proliferation of fibrous tissue within the medullary bone, with secondary bony metaplasia, producing immature, newly formed and weakly calcified bone, without maturation of osteoblast which appears radiolucent on radiographs, with classically described ground glass appearance.1 Fibrous dysplasia is described in terms of three major types, monostotic involving a single bone, polyostotic involving multiple bones and Mc Cune-Albright syndrome, a polyostotic form of fibrous dysplasia that also involves endocrine abnormalities.2 Fibrous dysplasia was first reported by Von Recklinghausen in 1891 and he coined the term Osteitis Fibrosa Generalisata. In 1938, Lichtenstein and Jaffe first introduced the term Fibrous dysplasia. In this paper, we describe a variant of monostotic craniofacial fibrous dysplasia. This case is interesting for its unusual features and to our knowledge is the first of its kind to be reported. Case Report A 55- year- old male, presented to the Department of Oral Medicine and Radiology, Sri Ramakrishna Dental College and Hospital, Coimbatore, Tamil Nadu, with
*Senior lecturer, Dept. of Oral Medicine and Radiology **Professor and Head of the Dept. BDS Dept. of Oral Medicine and Radiology Sri Ramakrishna Dental College and Hospital, Coimbatore - 641006 Address for correspondence Dr Vennila P, MDS E-mail: velsdentcare@yahoo.com

the chief complaint of pain on the left side of the face for the past 8 days. The patient had associated swelling on the same side for the past 5 years. The swelling was initially asymptomatic and it gradually increased in size. It was also associated with discharge of pus which was evident on the left side of the mandible. Past medical and dental history were not contributory. There was no family history with similar findings. General examination showed no abnormalities. On extra oral examination, gross facial asymmetry was noted due to the presence of a diffused swelling on the left side of the face, extending anteriorly from the midline crossing 33, posteriorly to the tragus of the ear, superiorly from condyle and inferiorly to angle of the mandible. There was draining sinus in the body of the mandible on the left side. On intraoral examination, a unilateral diffuse expansile mass was seen on the alveolar ridge on the left side. It was tender and hard in consitency. On hard tissue examination, there was generalized severe attrition. Based on the clinical examination, the initial diagnosis was a fibro osseous lesion of the mandible with periapical pathology leading to a sinus opening. On further investigation, the occlusal radiograph revealed a unilateral expansile mass of mixed radiolucency. Bicortical expansion was seen on the left side of the mandible. OPG revealed a well defined mixed radiolucent and radiopacities on the left side of the mandible, extending from left lower canine 33 to the condyle on the same side. There was also displacement of teeth and associated resorption of roots. CT Scan showed gross expansion with areas of sclerosis and lucencies seen in the left ramus and adjacent body of

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Fig 1. Extra oral photograph showing gross asymmetry of face

Fig 2. Intraoral photograph showing expansile mass on the left side of the mandible

Fig 4. OPG showing well defined mixed radiolucent and radiopacities on the mandible

Fig 3. Occlusal radiograph showing bicortical expansion on the left side of mandible

Fig 5. CT showing gross expansion with areas of sclerosis and lucencies

Fig 6. Photograph showing 3D reconstruction image of lesion

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Fig 7. Photograph showing the biopsy specimen

Fig 8. Histological section of the lesion revealing trabeculae of irregular woven bone, in a fibrous connective tissue.

mandible. Expansile lesions were also seen in sphenoidal bone, right ethmoidal sinus, orbit, frontal sinus, hard palate and the zygomatic process of left maxilla. Laboratory investigations like the parathyroid hormone assay revealed that the level was 58pg/ml (7-53pg/ml), alkaline phosphatase level was 300U/L at 37c up to 306U/L at 37c, serum calcium level was 8.2mg/dl (8.1 to 10.4mg/dl) and Serum phosphorus level was 2.8mg/dl (2.5 to 4.8mg/ dl. Biopsy was done under local anesthesia. Histological examination revealed trabeculae of irregular woven bone, in a fibrous connective tissue. There was no osteoblastic rimming seen around the bony trabeculae. Based on this, the final diagnosis was made as a rare case of craniofacial monostotic fibrous dysplasia with bilateral involvement. Due to wide variety of involvement of the craniofacial regions, the treatment of this case is a multidisciplinary approach and the case was eventually referred to a higher centre and later the patient had lost follow up. Discussion Reeds definition states that fibrous dysplasia is an arrest of bone maturation, woven bone with ossification resulting from metaplasia of a nonspecific fibro osseous type.2 FD is caused due to the activating mutations in the GNAS gene which encodes for the alpha subunit of the signalling G protein, Gs alpha.3 FD has four different disease patterns. They are monostotic, polyostotic, craniofacial form and cherubism. Polyostotic form is again sub - classified into Jaffes type and Albrights syndrome. Both types consist of various bony involvements with cafe-au-lait spots. Albright syndrome has additional feature of endocrine disturbances of various type. Polyostotic fibrous dysplasia with soft 462

tissue myxomas is called Mazabraud syndrome.4 Approximately 70 80% of fibrous dysplasias are monostotic. It most frequently occurs in the ribs (28%), femur (23%), tibia, craniofacial bones and humerus, in decreasing order of frequency. FD is usually distributed in the unilateral side, although few cases of bilateral involvement have been reported. Maxilla is more commonly affected than mandible.4 It involves one or two contiguous bones.5 In this case, bilateral craniofacial bones of various types are affected. Initial manifestations of fibrous dysplasia are most commonly found in patients aged 3 15 years. In monostotic disease patient as old as 20 or 30 years are asymptomatic.4 The average age of patients with craniofacial fibrous dysplasia is 20 to 30 years.6 The incidence is equal in males and female.2 But in this case, age of the patient is 55 years. The patients with monostotic FD is often asymptomatic and discovered incidentally on the radiological imaging for other reasons. The main clinical symptoms are caused by the expanding mass, which may result in bony deformity, and nasal or sinus obstruction.5 Cystic degeneration may occur spontaneously in the FD lesions years after the initial diagnosis.7 All the features correlate with the present case, except for the cystic degeneration which was absent. Radiograph usually reveals a lytic, ground glass lesion consistent with FD.8 Evaluation with CT scanning is particularly valuable for the diagnosis of FD because it provides information about the characteristic and extent of the lesion. This entity may be classified into 3 types based on its CT appearance as follows: pagetoid, sclerotic and cystic. Pagetoid describes a mixture of dense and radiolucent areas of fibrosis; sclerotic lesions are homogenously dense,

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whereas cystic describes one or more spherical or ovoid lucencies that are surrounded by a dense periphery.9 MRI is useful in identifying fluid filled non FD-filled cystic lesions.8 This case makes the second category of sclerotic type. FD is histologically characterized by a benign appearing spindle cell fibrous stroma containing scattered, irregularly shaped trabeculae of immature ( woven ) bone, lacking osteoblast, that evolve directly from the stroma.10 FD may occasionally contain cartilage, the amount of which is quite variable. This correlates with the present case. Treatment for FD is always multidisciplinary, due to varying somatic mosaicism of craniofacial involvement of fibrous dysplasia, indicating need for a neuro- ophthalmological and an audiological testing. An early non surgical attempt of treatment of FD includes glucocorticosteroids, calcitonin, and external beam radiation.11 The only medications that have shown any efficiency in the treatment of FD are bisphophonates. The most rigorously conducted study to date using high dose, intravenous pamidronate (1 1.5 mg/kg per day on three consecutive days, given every 4 months) was by Plotkin et al.8 Generally, a conservative surgical approach including facial osseous debulking and contouring has been recommended for stable disease with minor symptoms. In progressive and more symptomatic cases with functional impairment and cosmetic deformity, radical resection of diseased tissue, optic nerve decompression, and reconstruction of the facial areas with autogenous bone grafts may be needed.12 Although the case of total resection of the craniofacial bones have been reported, the complete excision may result in the deformity and loss of function of the surgically involved part and consequently lower the patients quality of life caused by the significant complications of the surgery such as serious infection, leakage of cerebrospinal fluid, orbital damage, and intracranial injury.13 Therefore endoscopic sinus surgery (ESS) is done to resect most of the diseased bone. Stem cell treatment for FD is attractive. As such, as a stem cell disease, it may be a candidate for mesenchymal cell tissue engineering also.14 Conclusion Fibrous dysplasia can be a good example of somatic mosaicism as a wide variety of disease is possible. The general dental practitioner can be the first to detect such conditions especially when the only affected areas are in the maxilla-mandibular region, so sufficient knowledge on this condition is important for the proper diagnosis, treatment and prevention of further complications. For obtaining the definite diagnosis, treatment and further management of fibrous dysplasia, imaging studies, histological examination and laboratory tests are considered mandatory. Efforts should be made to define the optimal approach to the diagnosis and treatment of this challenging disease.
ACKNOWLEDGEMENT

Dr. Dinakaran. J, MDS, Professor and Head of the Department, Department of Oral Pathology, Sri Ramakrishna Dental College and Hospital, Coimbatore. Dr. Jeyaraj J M, Principal, Head of the Department of Orthodontics, Sri Ramakrishna Dental College and Hospital, Coimbatore. ABBREVATIONS FD fibrous dysplasia BMSCs bone marrow stromal cells GNAS guanine nucleotide binding protein, alpha stimulating cAMP cyclic adenosine monophosphate OPG orthopantamogram CT computed tomography MRI magnetic resonance imaging References
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