Recently, extraordinary progress has been made in our understanding of the mechanisms and molecular pathways underlying focal and sclerotic bone diseases, rare disorders which have a strong genetic component. This has already led to a clearer characterization of these conditions and, in several cases, has enabled the development of new therapeutic approaches.
The invited reviews featured in this special edition of 'Calcified Tissue International' provide expert commentary and a valuable overview of advances in the knowledge of several rare focal and sclerotic bone diseases including Paget's disease of bone and related syndromes, fibrous dysplasia of bone and McCune-Albright syndrome, Melorheostosis and Osteopoikilosis, chronic non-bacterial osteomyelitis, as well as Camurati-Engelmann disease.
Although investigations into the molecular and genetic basis of these conditions have not yet yielded results for all the conditions, the advances have overall led to a better understanding of the causes of the particular lesions. In certain cases, like Paget's disease, this knowledge has vastly improved diagnosis and management of the disorder. In other cases, such as with Camurati-Engelmann disease, it has led to research into a potentially new therapeutic approach. Finally, in other disorders where a genetic basis is suspected but not yet pinpointed, advances have still been made in the management of these disorders, for example in the case of Fibrogenesis Imperfecta Ossium.
Professor Stuart Ralston, special issue editor, stated: "These state-of-the-art reviews by leading experts show the immense progress which has been made in our understanding of rare skeletal diseases. Indeed, for diseases such as Paget's, tremendous leaps have been made which now mean a better management of the disease is possible. In other diseases, these advances mean new avenues for therapeutic intervention are now on the horizon. Although there is still a long way to go, the hope is that with increasing knowledge we will be able to continually improve patient management from diagnosis to treatment. We thank the authors for contributing these outstanding publications."