Understanding fibrous dysplasia & its variants from cause to care


Article PDF :

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Article type :

Review Article

Author :

Safiya Bhat, Rajat Nangia, Ravi Gupta, Kapish Chaudhary

Volume :

15

Issue :

1

Abstract :

Fibro-osseous lesions represent a diverse group of conditions characterized by the replacement of normal bone with fibrous connective tissue and varying levels of mineralization. Fibrous dysplasia (FD) is a benign fibro-osseous condition where normal bone is replaced by fibrous tissue and irregular metaplastic bone. It often results from mutations in the GNAS1 gene, leading to hormonal imbalances and café-au-lait spots. FD commonly affects craniofacial bones, especially the posterior maxilla, and may cause bone weakening and fractures. It is classified as monostotic (single bone) or polyostotic (multiple bones), with variants like Jaffe’s type, Albright syndrome, craniofacial form, and cherubism. Elevated alkaline phosphatase levels are common in affected individuals.

Keyword :

Fibrous dysplasia, Cherubism, Bone disorder, GNAS mutation, Variant G protein, Rare disease, Pathogenesis, Trabeculae.