Osteopetrosis is an osteoclast disease due to impairment of either osteoclastogenesis or bone resorption. It was first described in 1904 by Albers-Schönberg and is also called marble bone disease because of the dense bones observed by X-ray. Osteopetrosis is genetically and phenotypically heterogeneous, ranging from lethal to relatively mild phenotypes. However, a common hallmark of the disease is bone fragility despite the increased bone mass. A variety of symptoms affect patients, with high morbidity and sufferance, especially in the most severe forms. In-depth information was obtained from osteopetrosis concerning the molecular mechanisms of bone resorption and osteoclast formation, laying the foundation for the identification of genetic mutations affecting a vast variety of patients. The lesson from basic research has been instrumental also in identifying therapies, especially the hematopoietic stem cell transplantation currently used to cure most patients affected by lethal forms. In this chapter, we will describe the human disease and will provide information on consolidated and experimental treatments.
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