Fibrous Dysplasia - a Rare Case Report with Review of Literature

INTRODUCTION

Fibrous dysplasia (FD) is a benign disease of bone that was originally described by Lichtenstein more than sixty years ago^(1,2). Although its actual incidence is not known, it accounts for between 2.5 and 10 percent of all bone tumors, thus a relatively common disease. FD is a developmental dysplastic disorder of bone in which the normal bone matrix is replaced by fibroblastic proliferation. Lesions contain irregular trabeculae of partially calcified osteoid.

Its etiology has been linked with a mutation in the Gs ? gene located at chromosome 20q13.2–13.3^(4,5). The mutation was first identified in patients with McCune-Albright syndrome but later observed in monostotic and polyostotic FD cases. Clinical presentation varies depending on mutation timing and distribution⁽⁶⁾.

CASE REPORT

A 13-year-old male patient reported with swelling on the left side of the face (Fig 1) and upper posterior teeth region for 1 year. The swelling gradually increased without pain or paresthesia.

FIG 1: EXTRAORAL VIEW SHOWING FACIAL SWELLING.

Intraoral examination showed swelling in relation to 24–27 region.

FIG 2: INTRAORAL VIEW SHOWING SWELLING IN LEFT MAXILLA.

Radiographic examination revealed mixed radiolucent-radiopaque lesions with ground glass appearance.

FIG 3: OCCLUSAL RADIOGRAPH SHOWING GRANULAR PATTERN.

FIG 4: OPG SHOWING DIFFUSE RADIO-OPACITY.

Histopathological findings confirmed fibrous dysplasia.

FIG 5: HISTOPATHOLOGICAL FEATURES.

Patient was advised regular follow-up every 6 months.

DISCUSSION

Craniofacial FD presents typically around age 10 and progresses during adolescence⁽⁷⁾. Clinical presentation varies from mild swelling to severe deformity⁽⁹⁾.

Complications include optic nerve compression, visual loss, and cystic degeneration^(10–14). Management depends on severity and progression.

DIAGNOSIS / EVALUATION

Diagnosis requires correlation of clinical, radiographic, and histological findings⁽⁷⁾. CT imaging is superior for extent evaluation⁽¹⁹⁾, while MRI may sometimes mislead⁽²⁴⁾.

Biochemical markers like serum alkaline phosphatase help in monitoring disease progression.

TREATMENT

Treatment options include conservative contouring or radical excision depending on severity⁽⁷⁾. Reconstruction may involve bone grafts or microvascular flaps.

Medical treatment includes steroids and bisphosphonates like pamidronate⁽⁴⁷⁾.

CONCLUSION

Fibro-osseous lesions require careful diagnosis using clinical, radiographic, and histological correlation. Biopsy remains essential for definitive diagnosis. Proper differentiation from similar conditions is crucial for effective management.