Gigantiform Cementoma, Familial (FGC)

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OMIM®: ⁵⁷ Familial gigantiform cementoma (FGC) is a rare autosomal dominant tumor that is benign but can result in disfigurement of the facial skeleton. Onset of symptoms usually occurs in adolescence, with rapid growth causing expansion of the maxilla and mandible, resulting in significant facial deformity and malocclusion. Radiologic examination defines 3 stages of the lesions: osteolytic, with well-defined radiolucent areas; cementoblastic, in which cementum is formed within the fibrous tissue, represented by radiopacities within the radiolucent zones; and mature, in which the fibrous tissue is almost completely replaced by cementum, represented by a large radioopaque area surrounded by a radiolucent space separating the tumor from normal bone. Histologic examination shows confluent sclerotic avascular cementum, with distinct areas of lamellar bone in some cases. Examination under polarized light reveals a varied birefringent pattern typical of cementum (summary by Finical et al., 1999). Affected individuals may develop osteopenia and sustain long bone fractures after minor trauma (Moshref et al., 2008; Wang et al., 2015). (137575) (Updated 08-Dec-2022)

MalaCards based summary: Gigantiform Cementoma, Familial, also known as cemental dysplasia, periapical, is related to florid cemento-osseous dysplasia and prostate cancer. Affiliated tissues include bone, and related phenotypes are multiple impacted teeth and tooth malposition

Orphanet: ⁵⁸ A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Gigantiform Cementoma, Familial