Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway
Résumé
Fibrodysplasia ossificans progressiva is a very rare heritable disease characterized by a progressive heterotopic endochondal ossification, occurring in the first decade of life, and leading thereafter to a severe ankylosis of the spine, limbs and jaw, with a progressive and severe functional disability. To date the cause of the disease remains unknown and no medical treatment has been proved efficient. It has recently been shown that a recurrent mutation in activation domain of the activin-receptor IA (ACVR1), a BMP receptor, could lead to an abnormal signalling pathway of BMP-4 and contribute to the occurrence of the devastating lesions characteristic of the disease.
Mots clés
Activin Receptors
Type I
Adult
Anti-Inflammatory Agents
Non-Steroidal
Bone Density Conservation Agents
Bone Morphogenetic Protein 4
etidronic acid
Fractures
Bone
Gene Expression Regulation
Humans
Joints
Magnetic Resonance Imaging
Male
Myositis Ossificans
Ossification
Heterotopic
Point Mutation
Radiography
Rare Diseases
Signal Transduction
Skull
Ultrasonography