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CC BY 4.0 · Glob Med Genet 2021; 08(02): 041-050
DOI: 10.1055/s-0041-1724105
Review Article

Genetic Disorders of Bone or Osteodystrophies of Jaws—A Review

Sirisha Vammi
1   Private Practitioner, Oral Medicine and Radiology, Vishakapatnam, Andhra Pradesh, India
,
Jaya Lakshmi Bukyya
2   Department of Oral Medicine and Radiology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India
,
Anulekha Avinash CK
3   Department of Prosthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India
,
M. L. Avinash Tejasvi
4   Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India
,
Archana Pokala
4   Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India
,
Chanchala HP
5   Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India
,
Priyanka Talwade
5   Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India
,
Praveen Kumar Neela
6   Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India
,
T. K. Shyamilee
7   Private Practitioner, MDS in Oral Pathology, Hyderabad, Telangana, India
,
Mary Oshin
8   Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India
,
Veenila Pantala
8   Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India
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Abstract

Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins. The properties of bone are very remarkable, because it is a dynamic tissue, undergoing constant renewal in response to mechanical, nutritional, and hormonal influences. In 1978, “The International Nomenclature of Constitutional Diseases of Bone” divided bone disorders into two broad groups: osteochondrodysplasias and dysostoses. The osteochondrodysplasia group is further subdivided into two categories: dysplasias (abnormalities of bone and/or cartilage growth) and osteodystrophies (abnormalities of bone and/or cartilage texture). The dysplasias form the largest group of bone disorders, hence the loose term “skeletal dysplasia” that is often incorrectly used when referring to a condition that is in reality an osteodystrophy or dysostosis. The word “dystrophy” implies any condition of abnormal development. “Osteodystrophies,” as their name implies, are disturbances in the growth of bone. It is also known as osteodystrophia. It includes bone diseases that are neither inflammatory nor neoplastic but may be genetic, metabolic, or of unknown origin. Recent studies have shown that bone influences the activity of other organs, and the bone is also influenced by other organs and systems of the body, providing new insights and evidencing the complexity and dynamic nature of bone tissue. The 1,25-dihydroxyvitamin D3, or simply vitamin D, in association with other hormones and minerals, is responsible for mediating the intestinal absorption of calcium, which influences plasma calcium levels and bone metabolism. Diagnosis of the specific osteodystrophy type is a rather complex process and various biochemical markers and radiographic findings are used, so as to facilitate this condition. For diagnosis, we must consider the possibility of lesions related to bone metabolism altered by chronic renal failure (CRI), such as the different types of osteodystrophies, and differentiate from other possible neoplastic and/or inflammatory pathologies. It is important that the dentist must be aware of patients medical history, suffering from any systemic diseases, and identify the interference of the drugs and treatments to control them, so that we can able to perform the correct diagnosis and propose the most adequate treatment and outcomes of the individuals with bone lesions.

Keywords

PTH—Parathyroid hormone - CRI—Chronic renal failure - RANKL—Receptor activator of NF-B ligand - TGF—Transforming growth factor - M-CSF—Macrophage colony stimulating factor - FGFR3—Fibroblast growth factor receptor


Publication History

Article published online:
15 March 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Clarke B. Normal bone anatomy and physiology. Clin J Am Soc Nephrol 2008; 3 (03) (Suppl. 03) S131-S139
    CrossrefPubMedGoogle Scholar
  • 2 Downey PA, Siegel MI. Bone biology and the clinical implications for osteoporosis. Phys Ther 2006; 86 (01) 77-91
    CrossrefPubMedGoogle Scholar
  • 3 Ralston SH. Bone structure and metabolism. Medicine 2013; 41 (10) 581-585
    CrossrefGoogle Scholar
  • 4 Matsuo K, Irie N. Osteoclast-osteoblast communication. Arch Biochem Biophys 2008; 473 (02) 201-209
    CrossrefPubMedGoogle Scholar
  • 5 Shafer WG, Hine MK, Levy BM. et al. A Textbook of Oral Pathology. 4th ed.. Philadelphia: Saunders; 2000: 678-680
    Google Scholar
  • 6 Fukumoto S, Martin TJ. Bone as an endocrine organ. Trends Endocrinol Metab 2009; 20 (05) 230-236
    CrossrefPubMedGoogle Scholar
  • 7 Sims NA, Gooi JH. Bone remodeling: multiple cellular interactions required for coupling of bone formation and resorption. Semin Cell Dev Biol 2008; 19 (05) 444-451
    CrossrefPubMedGoogle Scholar
  • 8 Parfitt AM. Targeted and nontargeted bone remodeling: relationship to basic multicellular unit origination and progression. Bone 2002; 30 (01) 5-7
    CrossrefPubMedGoogle Scholar
  • 9 Roodman GD. Cell biology of the osteoclast. Exp Hematol 1999; 27 (08) 1229-1241
    CrossrefPubMedGoogle Scholar
  • 10 Blair HC, Athanasou NA. Recent advances in osteoclast biology and pathological bone resorption. Histol Histopathol 2004; 19 (01) 189-199
    PubMedGoogle Scholar
  • 11 Boskey AL, Spevak L, Paschalis E, Doty SB, McKee MD. Osteopontin deficiency increases mineral content and mineral crystallinity in mouse bone. Calcif Tissue Int 2002; 71 (02) 145-154
    CrossrefPubMedGoogle Scholar
  • 12 Yagami K, Suh J-Y, Enomoto-Iwamoto M. et al. Matrix GLA protein is a developmental regulator of chondrocyte mineralization and, when constitutively expressed, blocks endochondral and intramembranous ossification in the limb. J Cell Biol 1999; 147 (05) 1097-1108
    CrossrefPubMedGoogle Scholar
  • 13 Buckwalter JA, Glimcher MJ, Cooper RR, Recker R. Bone biology. I: Structure, blood supply, cells, matrix, and mineralization. Instr Course Lect 1996; 45: 371-386
    PubMedGoogle Scholar
  • 14 Zimmerman D, Jin F, Leboy P, Hardy S, Damsky C. Impaired bone formation in transgenic mice resulting from altered integrin function in osteoblasts. Dev Biol 2000; 220 (01) 2-15
    CrossrefPubMedGoogle Scholar
  • 15 Marie PJ. Role of N-cadherin in bone formation. J Cell Physiol 2002; 190 (03) 297-305
    CrossrefPubMedGoogle Scholar
  • 16 Helfrich MH, Stenbeck G, Nesbitt MA. et al. “Integrins and adhesion molecules.”. In: JP Bilezikan, LG Raisz, TJ Martin, eds. Principles of Bone Biology. San Diego, Calif, USA: Academic Press, Elsevier; 2008: 385-424
    CrossrefGoogle Scholar
  • 17 Negishi-Koga T, Shinohara M, Komatsu N. et al. Suppression of bone formation by osteoclastic expression of semaphorin 4D. Nat Med 2011; 17 (11) 1473-1480
    CrossrefPubMedGoogle Scholar
  • 18 Calvi LM, Sims NA, Hunzelman JL. et al. Activated parathyroid hormone/parathyroid hormone-related protein receptor in osteoblastic cells differentially affects cortical and trabecular bone. J Clin Invest 2001; 107 (03) 277-286
    CrossrefPubMedGoogle Scholar
  • 19 Cenci S, Weitzmann MN, Roggia C. et al. Estrogen deficiency induces bone loss by enhancing T-cell production of TNF-alpha. J Clin Invest 2000; 106 (10) 1229-1237
    CrossrefPubMedGoogle Scholar
  • 20 Pocock NA, Eisman JA, Hopper JL, Yeates MG, Sambrook PN, Eberl S. Genetic determinants of bone mass in adults. A twin study. J Clin Invest 1987; 80 (03) 706-710
    CrossrefPubMedGoogle Scholar
  • 21 Baljet B. Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome). Ann Anat 2002; 184 (01) 1-7
    CrossrefPubMedGoogle Scholar
  • 22 Martin A, Liu S, David V. et al. Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling. FASEB J 2011; 25 (08) 2551-2562
    CrossrefPubMedGoogle Scholar
  • 23 Alharbi SA. A systematic overview of osteogenesis imperfecta. Mol Biol 2016; 5: 150
    Google Scholar
  • 24 Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 2014; 164A (06) 1470-1481
    CrossrefPubMedGoogle Scholar
  • 25 Brusin JH. Osteogenesis imperfecta. Radiol Technol 2008; 79 (06) 535-548 , quiz 549–551
    PubMedGoogle Scholar
  • 26 Monti E, Mottes M, Fraschini P. et al. Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manag 2010; 6: 367-381
    PubMedGoogle Scholar
  • 27 Pauli RM, Botto LD. Achondroplasia. In: Cassidy SB, Battaglia A, Carey J, Viskochil DH. eds. Management of Genetic Syndromes. 2021
    Google Scholar
  • 28 Choi DY, Toledo-Aral JJ, Lin HY. et al. Fibroblast growth factor receptor 3 induces gene expression primarily through Ras-independent signal transduction pathways. J Biol Chem 2001; 276 (07) 5116-5122
    CrossrefPubMedGoogle Scholar
  • 29 Nikkel SM, Major N, King WJ. Growth and development in thanatophoric dysplasia - an update 25 years later. Clin Case Rep 2013; 1 (02) 75-78
    CrossrefPubMedGoogle Scholar
  • 30 Gelb BD. Marfan's syndrome and related disorders--more tightly connected than we thought. N Engl J Med 2006; 355 (08) 841-844
    CrossrefPubMedGoogle Scholar
  • 31 Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 2: treatment and management of patients. Nat Rev Cardiol 2010; 7 (05) 266-276
    CrossrefPubMedGoogle Scholar
  • 32 Schulz A, Moushous D, Steward CG, Villa A, Sobacchi C. Osteopetrosis: consensus guidelines for diagnosis, therapy and followup. 2015 DOI: https://doi.org/10.1055/s-oo41-1724105
    CrossrefGoogle Scholar
  • 33 Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009; 4: 5
    CrossrefPubMedGoogle Scholar
  • 34 Jayachandran S, Preethi M. Clinical spectrum of osteopetrosis with secondary osteomyelitis of the mandible: report of two cases. J Indian Acad Oral Med Radiol 2018; 30: 165-168
    CrossrefGoogle Scholar
  • 35 Landa J, Margolis N, Di Cesare P. Orthopaedic management of the patient with osteopetrosis. J Am Acad Orthop Surg 2007; 15 (11) 654-662
    CrossrefPubMedGoogle Scholar
  • 36 McNamara CM, O'Riordan BC, Blake M, Sandy JR. Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 1999; 28 (02) 89-97
    CrossrefPubMedGoogle Scholar
  • 37 Whyte M. Hypophosphatasia. In: Glorieux FH, Pettifor JM, Juppner H. eds. Pediatric Bone: Biology and Diseases. San Diego, CA: Academic Press; 2012: 771-794
    Google Scholar
  • 38 Fraser D, Yendt ER, Christie FH. Metabolic abnormalities in hypophosphatasia. Lancet 1955; 268 (6858): 286
    CrossrefPubMedGoogle Scholar
  • 39 Hofmann C, Girschick HJ, Mentrup B. et al. Clinical aspects of hypophosphatasia: an update. Clin Rev Bone Miner Metab 2013; 11 (02) 60-70
    CrossrefGoogle Scholar
  • 40 Jones WA, Gerrie J, Pritchard J. Cherubism--familial fibrous dysplasia of the jaws. J Bone Joint Surg Br 1950; 32-B (03) 334-347
    CrossrefPubMedGoogle Scholar
  • 41 Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. Orphanet J Rare Dis 2012; 7 (Suppl. 01) S6
    CrossrefPubMedGoogle Scholar
  • 42 Reitsma JH, Elmi P, Ongkosuwito EM, Buschang PH, Prahl-Andersen B. A longitudinal study of dental arch morphology in children with the syndrome of Crouzon or Apert. Eur J Oral Sci 2013; 121 (04) 319-327
    CrossrefPubMedGoogle Scholar
  • 43 Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009; 17 (03) 275-283
    CrossrefPubMedGoogle Scholar
  • 44 Bellingham AJ, Heuhns ER. Compensation in haemolytic anaemia caused by abnormal haemoglobin. Nature Lancet 1968; 218: 924-926
    CrossrefPubMedGoogle Scholar
  • 45 Scott BR. Sickle cell anaemia. Paediatric Child of N Am 1962; 93: 649
    CrossrefPubMedGoogle Scholar
  • 46 Sankaran VG, Nathan DG. Thalassemia: an overview of 50 years of clinical research. Hematol Oncol Clin North Am 2010; 24 (06) 1005-1020
    CrossrefPubMedGoogle Scholar
  • 47 Looser. Zun kenntis den osteogenesis Imperfecta congenita et Tarda (sogennate idiopathische osteopatyrosis) (in German). Mittlg Grenzgebiete MEd chir 1906; 15: 161-207
    Google Scholar
  • 48 Sykes B, Francis MJ, Smith R. Altered relation of two collagen types in osteogenesis imperfecta. N Engl J Med 1977; 296: 1200-1203
    CrossrefPubMedGoogle Scholar
  • 49 Bradford WL, Dye J. Observations on the morphology of the crythmytes in Mediterranean disease thalassemia (Erythroblastic anemia of cooley). J Pediatr 1936; 9 (03) 12-13
    CrossrefGoogle Scholar