RESUMEN
PURPOSE OF REVIEW: The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents. RECENT FINDINGS: Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.
Asunto(s)
Hiperostosis/genética , Osteítis Deformante/genética , Osteosclerosis/genética , Picnodisostosis/genética , Anomalías Múltiples/genética , Enfermedades del Desarrollo Óseo/genética , Remodelación Ósea/genética , Resorción Ósea/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Discapacidad Intelectual/genética , Melorreostosis/genética , Osteoblastos , Osteoclastos , Osteogénesis/genética , Osteopetrosis/genética , Osteopoiquilosis/genéticaRESUMEN
Osteopoikilosis has always been described as a radiological finding of no clinico-biological significance with no deforming consequences for the skeleton. The authors present three cases with a past family history (mother suffered from osteopoikilosis and two sons with Buschke-Ollendorf syndrome) in whom we found alterations of phosphorus and calcium metabolism, this not having been previously reported in the literature.