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FIBRODYSPLASIA OSSIFICANS PROGRESSIVA- A MAN INTO STONE SYNDROME

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Abstract

Fibrodysplasia ossificans Progressiva (FOP) is rare genetic Connective Tissue Disorder in which soft tissue of the body got damage and transformed into bone.The first case of Fibrodysplasia Ossificans Progressiva was documented by Guy Putin in 1692. Till 2017, approximately 800 cases of FOP have been noted worldwide.FOP is characterised by malformation of great toes and progressive heterotropic ossification. the joints of body become immovable. It usually begins in the neck and shoulders and progresses along the back, trunk, and limbs of the body. FOP is caused by mutation in gene known as ACVR1 ( also known as ALK2) as a result structure and activity of Bone Morphogenic Protein (BMP) type change. Currently ,there are no effective medical treatment of FOP is available. However, research being going on for the treatment and prevention is looking in several directions including the disruption of related inductive signaling, suppression of immunological and inflammatory triggers, alteration of the osteoprogenitor cells in target tissues, and the modification of the environment that causes it to proliferate. Key words- FOP, heterotropic ossificans,ACVR1,BMP,osteoprogenitor
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