Genetic Disorders of Bone or Osteodystrophies of Jaws-A Review.
Identifieur interne : 000010 ( Main/Exploration ); précédent : 000009; suivant : 000011Genetic Disorders of Bone or Osteodystrophies of Jaws-A Review.
Auteurs : Sirisha Vammi [Inde] ; Jaya Lakshmi Bukyya [Inde] ; Anulekha Avinash Ck [Inde] ; M L Avinash Tejasvi [Inde] ; Archana Pokala [Inde] ; Chanchala Hp [Inde] ; Priyanka Talwade [Inde] ; Praveen Kumar Neela [Inde] ; T K Shyamilee [Inde] ; Mary Oshin [Inde] ; Veenila Pantala [Inde]Source :
- Global medical genetics [ 2699-9404 ] ; 2021.
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.
DOI: 10.1055/s-0041-1724105
PubMed: 33987622
PubMed Central: PMC8110367
Affiliations:
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sort="Neela, Praveen Kumar" uniqKey="Neela P" first="Praveen Kumar" last="Neela">Praveen Kumar Neela</name><affiliation wicri:level="1"><nlm:affiliation>Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Shyamilee, T K" sort="Shyamilee, T K" uniqKey="Shyamilee T" first="T K" last="Shyamilee">T K Shyamilee</name><affiliation wicri:level="1"><nlm:affiliation>Private Practitioner, MDS in Oral Pathology, Hyderabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Private Practitioner, MDS in Oral Pathology, Hyderabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Oshin, Mary" sort="Oshin, Mary" uniqKey="Oshin M" first="Mary" last="Oshin">Mary Oshin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Pantala, Veenila" sort="Pantala, Veenila" uniqKey="Pantala V" first="Veenila" last="Pantala">Veenila Pantala</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, 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wicri:level="1"><nlm:affiliation>Private Practitioner, Oral Medicine and Radiology, Vishakapatnam, Andhra Pradesh, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Private Practitioner, Oral Medicine and Radiology, Vishakapatnam, Andhra Pradesh</wicri:regionArea><wicri:noRegion>Andhra Pradesh</wicri:noRegion></affiliation></author><author><name sortKey="Bukyya, Jaya Lakshmi" sort="Bukyya, Jaya Lakshmi" uniqKey="Bukyya J" first="Jaya Lakshmi" last="Bukyya">Jaya Lakshmi Bukyya</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Medicine and Radiology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Medicine and Radiology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Ck, Anulekha Avinash" sort="Ck, Anulekha Avinash" uniqKey="Ck A" first="Anulekha Avinash" last="Ck">Anulekha Avinash Ck</name><affiliation wicri:level="1"><nlm:affiliation>Department of Prosthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Prosthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Tejasvi, M L Avinash" sort="Tejasvi, M L Avinash" uniqKey="Tejasvi M" first="M L Avinash" last="Tejasvi">M L Avinash Tejasvi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Pokala, Archana" sort="Pokala, Archana" uniqKey="Pokala A" first="Archana" last="Pokala">Archana Pokala</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Hp, Chanchala" sort="Hp, Chanchala" uniqKey="Hp C" first="Chanchala" last="Hp">Chanchala Hp</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka</wicri:regionArea><wicri:noRegion>Karnataka</wicri:noRegion></affiliation></author><author><name sortKey="Talwade, Priyanka" sort="Talwade, Priyanka" uniqKey="Talwade P" first="Priyanka" last="Talwade">Priyanka Talwade</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka</wicri:regionArea><wicri:noRegion>Karnataka</wicri:noRegion></affiliation></author><author><name sortKey="Neela, Praveen Kumar" sort="Neela, Praveen Kumar" uniqKey="Neela P" first="Praveen Kumar" last="Neela">Praveen Kumar Neela</name><affiliation wicri:level="1"><nlm:affiliation>Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Shyamilee, T K" sort="Shyamilee, T K" uniqKey="Shyamilee T" first="T K" last="Shyamilee">T K Shyamilee</name><affiliation wicri:level="1"><nlm:affiliation>Private Practitioner, MDS in Oral Pathology, Hyderabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Private Practitioner, MDS in Oral Pathology, Hyderabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Oshin, Mary" sort="Oshin, Mary" uniqKey="Oshin M" first="Mary" last="Oshin">Mary Oshin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Pantala, Veenila" sort="Pantala, Veenila" uniqKey="Pantala V" first="Veenila" last="Pantala">Veenila Pantala</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author></analytic><series><title level="j">Global medical genetics</title><idno type="eISSN">2699-9404</idno><imprint><date when="2021" type="published">2021</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">33987622</PMID><DateRevised><Year>2021</Year><Month>05</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">2699-9404</ISSN><JournalIssue CitedMedium="Internet"><Volume>8</Volume><Issue>2</Issue><PubDate><Year>2021</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Global medical genetics</Title><ISOAbbreviation>Glob Med Genet</ISOAbbreviation></Journal><ArticleTitle>Genetic Disorders of Bone or Osteodystrophies of Jaws-A Review.</ArticleTitle><Pagination><MedlinePgn>41-50</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1055/s-0041-1724105</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>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/ ).</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Vammi</LastName><ForeName>Sirisha</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Private Practitioner, Oral Medicine and Radiology, Vishakapatnam, Andhra Pradesh, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bukyya</LastName><ForeName>Jaya Lakshmi</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Department of Oral Medicine and Radiology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ck</LastName><ForeName>Anulekha Avinash</ForeName><Initials>AA</Initials><AffiliationInfo><Affiliation>Department of Prosthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tejasvi</LastName><ForeName>M L Avinash</ForeName><Initials>MLA</Initials><AffiliationInfo><Affiliation>Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pokala</LastName><ForeName>Archana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hp</LastName><ForeName>Chanchala</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Talwade</LastName><ForeName>Priyanka</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neela</LastName><ForeName>Praveen Kumar</ForeName><Initials>PK</Initials><AffiliationInfo><Affiliation>Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shyamilee</LastName><ForeName>T K</ForeName><Initials>TK</Initials><AffiliationInfo><Affiliation>Private Practitioner, MDS in Oral Pathology, Hyderabad, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Oshin</LastName><ForeName>Mary</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pantala</LastName><ForeName>Veenila</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2021</Year><Month>03</Month><Day>15</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Glob Med Genet</MedlineTA><NlmUniqueID>101769583</NlmUniqueID><ISSNLinking>2699-9404</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CRI—Chronic renal failure</Keyword><Keyword MajorTopicYN="N">FGFR3—Fibroblast growth factor receptor</Keyword><Keyword MajorTopicYN="N">M-CSF—Macrophage colony stimulating factor</Keyword><Keyword MajorTopicYN="N">PTH—Parathyroid hormone</Keyword><Keyword MajorTopicYN="N">RANKL—Receptor activator of NF-B ligand</Keyword><Keyword MajorTopicYN="N">TGF—Transforming growth factor</Keyword></KeywordList><CoiStatement>Conflict of Interest None declared.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2021</Year><Month>5</Month><Day>14</Day><Hour>7</Hour><Minute>5</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2021</Year><Month>5</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2021</Year><Month>5</Month><Day>15</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">33987622</ArticleId><ArticleId IdType="doi">10.1055/s-0041-1724105</ArticleId><ArticleId IdType="pii">2000035</ArticleId><ArticleId IdType="pmc">PMC8110367</ArticleId></ArticleIdList><ReferenceList><Reference><Citation>Clin J Am Soc Nephrol. 2008 Nov;3 Suppl 3:S131-9</Citation><ArticleIdList><ArticleId 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