Abstract:
:Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Foster BL,Ramnitz MS,Gafni RI,Burke AB,Boyce AM,Lee JS,Wright JT,Akintoye SO,Somerman MJ,Collins MTdoi
10.1177/0022034514529150subject
Has Abstractpub_date
2014-07-01 00:00:00pages
7S-19Sissue
7 Suppleissn
0022-0345issn
1544-0591pii
0022034514529150journal_volume
93pub_type
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