Rare bone diseases and their dental, oral, and craniofacial manifestations.

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 Res

authors

Foster BL,Ramnitz MS,Gafni RI,Burke AB,Boyce AM,Lee JS,Wright JT,Akintoye SO,Somerman MJ,Collins MT

doi

10.1177/0022034514529150

subject

Has Abstract

pub_date

2014-07-01 00:00:00

pages

7S-19S

issue

7 Suppl

eissn

0022-0345

issn

1544-0591

pii

0022034514529150

journal_volume

93

pub_type

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