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J Dent Res. 2014 Jul;93(7 Suppl):7S-19S. doi: 10.1177/0022034514529150. Epub 2014 Apr 3.

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

Author information

  • 1National Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA brian.foster@nih.gov.
  • 2National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
  • 3Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • 4Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA Bone Health Program, Division of Orthopedics and Sports Medicine, Children's National Medical Center, Washington, DC, USA Division of Endocrinology and Diabetes, Children's National Medical Center, Washington, DC, USA.
  • 5Office of Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • 6Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • 7Department of Oral Medicine, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • 8National Institute for Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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.

KEYWORDS:

Gorham-Stout disease; familial hypophosphatemic rickets; fibrous dysplasia of bone; hyperphosphatemic familial tumoral calcinosis; hypophosphatasia; osteogenesis imperfecta

PMID:
24700690
PMCID:
PMC4107543
DOI:
10.1177/0022034514529150
[PubMed - indexed for MEDLINE]
Free PMC Article
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