Fibrodysplasia ossificans progressiva: still turning into wood after 300 years?
Fibrodysplasia ossificans progressiva (FOP), a rare autosomal dominant disorder, is characterized by symmetrical congenital skeletal abnormalities and progressive heterotopic ossification of the connective tissues. At present, more than 300 years after the first report by Patin in 1648 in which he described the woman who "turned to wood", its pathogenesis remains largely unknown and its therapy is limited to symptom-modifying trials. However, significant progress has been recently made and new data on the molecular organization and regulation of normal and disordered bone induction are likely to lead to a more specific therapy. FOP is believed to be a genetic disorder characterized by a disturbed expression of the endochondral osteogenesis programme, and the remarkable "clues from the fly" reported by Kaplan et al. [8] in 1990 suggest a gain-of-function mutation in the genetic regulation of bone morphogenetic proteins.
Buyse
G
G
Department of Paediatrics-Paediatric Neurology, University Hospital Gasthuisberg, Leuven, Belgium.
Silberstein
J
J
Goemans
N
N
Casaer
P
P
D019485:Bone Morphogenetic Proteins; D002648:Child; D003937:Diagnosis, Differential; D012968:Etidronic Acid / Q000627:therapeutic use; D006133:Growth Substances / Q000502:physiology; D006801:Humans; D009221:Myositis Ossificans / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D011506:Proteins / Q000502:physiology
D019485:Bone Morphogenetic Proteins; D006133:Growth Substances; D011506:Proteins; D012968:Etidronic Acid