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Essay On Fibrous Dysplasia

1085 Words5 Pages

Abstract
Fibrous Dysplasia is an uncommon bone disease due to an underlying gene mutation causing replacement of normal bone by fibro osseous connective tissue. It exists in mono and polyostotic forms.FD presents mostly between 3 and 15 years of age and without any gender variation. Bone pains and fractures are the most common presenting features. Radiological studies are done to support the diagnosis of FD. Recent evidences shows the efficacy of intravenous pamidronate in the treatment of FD along with other measures to maintain the maximum bone density.
Introduction
Fibrous dysplasia is a rare developmental disorder which occurs as a result of replacement of normal bony tissue by fibro osseous connective tissue1. The underlying defect on the nuclear level is a mutation in GNAS12 gene which activates pathways to prevent the maturation of the osteoprogenitor cells hence leading to development of abnormal bone structure produced by …show more content…

Pamidronate injections on 6 monthly basis, along with analgesics, calcium and vitamin D supplements were given. Her bone pains started improving and the patient was referred to rehabilitation department for limb length discrepancy. Currently the patient is on follow-up for 6 monthly Pamidronate therapy.
Discussion
Fibrous dysplasia is a congenital disease process of bone in which normal fibrous connective tissue replaces the normal bone marrow.13,14Fibrous dysplasia takes four forms: monostotic involving only one bone15; polyostotic involving multiple bones16; McCune-Albright syndrome ocurring with polyostotic form where fibrous dysplasia is accompanied by pigmentation lesions on the skin and endocrine abnormalities manifesting as precocious puberty in females17,18; and a craniofacial form (CFD) involving bones of the craniofacial complex only.19
Monostotic fibrous dysplasia occurs in 75-80% of the cases, where as polyostotic fibrous dysplasia accounts for 20-25% of

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