title: Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway.
abstract: 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.
authors.affiliation: Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; GEROM groupe d'études remodelage osseux et biomatériaux, IRIS-IBS institut de biologie en santé, CHU d'Angers, université d'Angers, 49933 Angers cedex, France.
authors.forename: B
authors.initials: B
authors.lastname: Bouvard
authors.affiliation: Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; GEROM groupe d'études remodelage osseux et biomatériaux, IRIS-IBS institut de biologie en santé, CHU d'Angers, université d'Angers, 49933 Angers cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Masson
authors.affiliation: Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; GEROM groupe d'études remodelage osseux et biomatériaux, IRIS-IBS institut de biologie en santé, CHU d'Angers, université d'Angers, 49933 Angers cedex, France.
authors.forename: E
authors.initials: E
authors.lastname: Legrand
authors.affiliation: Service de rhumatologie, CHU d'Angers, 49933 Angers cedex, France; GEROM groupe d'études remodelage osseux et biomatériaux, IRIS-IBS institut de biologie en santé, CHU d'Angers, université d'Angers, 49933 Angers cedex, France. Electronic address: maaudran@chu-angers.fr.
authors.forename: M
authors.initials: M
authors.lastname: Audran
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D055415:Bone Morphogenetic Protein 4 / Q000378:metabolism*; D012968:Etidronic Acid / Q000627:therapeutic use; D050723:Fractures, Bone / Q000209:etiology; D005786:Gene Expression Regulation; D006801:Humans; D007596:Joints / Q000000981:diagnostic imaging / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009221:Myositis Ossificans / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000209:etiology; D017354:Point Mutation; D011859:Radiography; D035583:Rare Diseases / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction; D012886:Skull / Q000000981:diagnostic imaging; D014463:Ultrasonography
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; C525809:BMP4 protein, human; D050071:Bone Density Conservation Agents; D055415:Bone Morphogenetic Protein 4; C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I; D012968:Etidronic Acid
keywords: BMP; Dysplasie ossifiante progressive; Fibrodysplasia ossificans progressiva; Ossification; Pathophysiology; Physiopathologie