A Possible Case of Cherubism in a 17th-Century Korean Mummy
Identifieur interne : 000112 ( Pmc/Checkpoint ); précédent : 000111; suivant : 000113A Possible Case of Cherubism in a 17th-Century Korean Mummy
Auteurs : Israel Hershkovitz [Israël] ; Mark Spigelman [Israël] ; Rachel Sarig [Israël] ; Do-Sun Lim [Corée du Sud] ; In Sun Lee [Corée du Sud] ; Chang Seok Oh [Corée du Sud] ; Hila May [Israël] ; Elisabetta Boaretto [Israël] ; Yi-Suk Kim [Corée du Sud] ; Soong Deok Lee [Corée du Sud] ; Nathan Peled [Israël] ; Myeung Ju Kim [Corée du Sud] ; Talya Toledano [États-Unis] ; Gila Kahila Bar-Gal [Israël] ; Dong Hoon Shin [Corée du Sud]Source :
- PLoS ONE [ 1932-6203 ] ; 2014.
Abstract
Cherubism is a benign fibro-osseous disease of childhood limited specifically to the maxilla and mandible. The progressive replacement of the jaw bones with expansile multilocular cystic lesions causes eventual prominence of the lower face, and hence the classic “cherubic” phenotype reflecting variable extents of jaw hypertrophy. Histologically, this condition has been characterized as replacement of the normal bone matrix with multicystic pockets of fibrous stroma and osteoclastic giant cells. Because of radiographic features common to both, primarily the presence of multiloculated lucencies with heterogeneous “ground-glass” sclerosis on CT imaging, cherubism was long mistaken for a craniofacial subtype of fibrous dysplasia. In 1999, however, the distinct genetic basis for cherubism was mapped to chromosome 4p16.3 and the SH-3 binding protein SH3BP2. But while there are already three suspected cases of fibrous dysplasia amongst archaeological populations, no definitive cases of cherubism have yet been reported in historical populations. In the current study we describe micro- and macro-structural changes in the face of a 17th century Joseon Dynasty Korean mummy which may coincide with the clinic-pathologic and radiologic features of cherubism.
Url:
DOI: 10.1371/journal.pone.0102441
PubMed: 25093864
PubMed Central: 4122385
Affiliations:
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PMC:4122385Le document en format XML
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-Century Korean Mummy</title>
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-Century Korean Mummy</title>
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<author><name sortKey="Oh, Chang Seok" sort="Oh, Chang Seok" uniqKey="Oh C" first="Chang Seok" last="Oh">Chang Seok Oh</name>
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<author><name sortKey="Boaretto, Elisabetta" sort="Boaretto, Elisabetta" uniqKey="Boaretto E" first="Elisabetta" last="Boaretto">Elisabetta Boaretto</name>
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<author><name sortKey="Lee, Soong Deok" sort="Lee, Soong Deok" uniqKey="Lee S" first="Soong Deok" last="Lee">Soong Deok Lee</name>
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<author><name sortKey="Peled, Nathan" sort="Peled, Nathan" uniqKey="Peled N" first="Nathan" last="Peled">Nathan Peled</name>
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<author><name sortKey="Kim, Myeung Ju" sort="Kim, Myeung Ju" uniqKey="Kim M" first="Myeung Ju" last="Kim">Myeung Ju Kim</name>
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<author><name sortKey="Toledano, Talya" sort="Toledano, Talya" uniqKey="Toledano T" first="Talya" last="Toledano">Talya Toledano</name>
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<author><name sortKey="Shin, Dong Hoon" sort="Shin, Dong Hoon" uniqKey="Shin D" first="Dong Hoon" last="Shin">Dong Hoon Shin</name>
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</nlm:aff>
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<front><div type="abstract" xml:lang="en"><p>Cherubism is a benign fibro-osseous disease of childhood limited specifically to the maxilla and mandible. The progressive replacement of the jaw bones with expansile multilocular cystic lesions causes eventual prominence of the lower face, and hence the classic “cherubic” phenotype reflecting variable extents of jaw hypertrophy. Histologically, this condition has been characterized as replacement of the normal bone matrix with multicystic pockets of fibrous stroma and osteoclastic giant cells. Because of radiographic features common to both, primarily the presence of multiloculated lucencies with heterogeneous “ground-glass” sclerosis on CT imaging, cherubism was long mistaken for a craniofacial subtype of fibrous dysplasia. In 1999, however, the distinct genetic basis for cherubism was mapped to chromosome 4p16.3 and the SH-3 binding protein SH3BP2. But while there are already three suspected cases of fibrous dysplasia amongst archaeological populations, no definitive cases of cherubism have yet been reported in historical populations. In the current study we describe micro- and macro-structural changes in the face of a 17<sup>th</sup>
century Joseon Dynasty Korean mummy which may coincide with the clinic-pathologic and radiologic features of cherubism.</p>
</div>
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<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id>
<journal-id journal-id-type="iso-abbrev">PLoS ONE</journal-id>
<journal-id journal-id-type="publisher-id">plos</journal-id>
<journal-id journal-id-type="pmc">plosone</journal-id>
<journal-title-group><journal-title>PLoS ONE</journal-title>
</journal-title-group>
<issn pub-type="epub">1932-6203</issn>
<publisher><publisher-name>Public Library of Science</publisher-name>
<publisher-loc>San Francisco, USA</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">25093864</article-id>
<article-id pub-id-type="pmc">4122385</article-id>
<article-id pub-id-type="publisher-id">PONE-D-13-36926</article-id>
<article-id pub-id-type="doi">10.1371/journal.pone.0102441</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
<subj-group subj-group-type="Discipline-v2"><subject>Biology and Life Sciences</subject>
<subj-group><subject>Anatomy</subject>
<subj-group><subject>Biological Tissue</subject>
<subj-group><subject>Connective Tissue</subject>
<subj-group><subject>Bone</subject>
</subj-group>
</subj-group>
</subj-group>
<subj-group><subject>Histology</subject>
<subject>Musculoskeletal System</subject>
</subj-group>
</subj-group>
<subj-group><subject>Biochemistry</subject>
<subj-group><subject>DNA</subject>
<subject>Nucleic Acids</subject>
</subj-group>
</subj-group>
<subj-group><subject>Genetics</subject>
<subj-group><subject>Mutation</subject>
</subj-group>
</subj-group>
<subj-group><subject>Paleontology</subject>
<subj-group><subject>Paleobiology</subject>
</subj-group>
</subj-group>
</subj-group>
<subj-group subj-group-type="Discipline-v2"><subject>Medicine and Health Sciences</subject>
<subj-group><subject>Diagnostic Medicine</subject>
<subj-group><subject>Diagnostic Radiology</subject>
<subj-group><subject>Tomography</subject>
<subj-group><subject>Computed Axial Tomography</subject>
</subj-group>
</subj-group>
</subj-group>
</subj-group>
<subj-group><subject>Pathology and Laboratory Medicine</subject>
</subj-group>
<subj-group><subject>Radiology and Imaging</subject>
</subj-group>
</subj-group>
</article-categories>
<title-group><article-title>A Possible Case of Cherubism in a 17<sup>th</sup>
-Century Korean Mummy</article-title>
<alt-title alt-title-type="running-head">A 400-Year-Old Korean Mummy with Cherubism</alt-title>
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<contrib-group><contrib contrib-type="author" equal-contrib="yes"><name><surname>Hershkovitz</surname>
<given-names>Israel</given-names>
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<xref ref-type="aff" rid="aff1"><sup>1</sup>
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<xref ref-type="corresp" rid="cor1"><sup>*</sup>
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<xref ref-type="author-notes" rid="fn1"><sup>¶</sup>
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<xref ref-type="aff" rid="aff1"><sup>1</sup>
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<xref ref-type="aff" rid="aff1"><sup>1</sup>
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<xref ref-type="aff" rid="aff2"><sup>2</sup>
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<given-names>In Sun</given-names>
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<xref ref-type="aff" rid="aff3"><sup>3</sup>
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<given-names>Chang Seok</given-names>
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<xref ref-type="aff" rid="aff4"><sup>4</sup>
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<xref ref-type="aff" rid="aff5"><sup>5</sup>
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<xref ref-type="aff" rid="aff1"><sup>1</sup>
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<given-names>Elisabetta</given-names>
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<xref ref-type="aff" rid="aff7"><sup>7</sup>
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<given-names>Yi-Suk</given-names>
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<xref ref-type="aff" rid="aff8"><sup>8</sup>
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<given-names>Soong Deok</given-names>
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<xref ref-type="aff" rid="aff5"><sup>5</sup>
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<xref ref-type="aff" rid="aff6"><sup>6</sup>
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<contrib contrib-type="author"><name><surname>Peled</surname>
<given-names>Nathan</given-names>
</name>
<xref ref-type="aff" rid="aff9"><sup>9</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kim</surname>
<given-names>Myeung Ju</given-names>
</name>
<xref ref-type="aff" rid="aff10"><sup>10</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Toledano</surname>
<given-names>Talya</given-names>
</name>
<xref ref-type="aff" rid="aff11"><sup>11</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bar-Gal</surname>
<given-names>Gila Kahila</given-names>
</name>
<xref ref-type="aff" rid="aff12"><sup>12</sup>
</xref>
</contrib>
<contrib contrib-type="author" equal-contrib="yes"><name><surname>Shin</surname>
<given-names>Dong Hoon</given-names>
</name>
<xref ref-type="aff" rid="aff4"><sup>4</sup>
</xref>
<xref ref-type="aff" rid="aff5"><sup>5</sup>
</xref>
<xref ref-type="corresp" rid="cor1"><sup>*</sup>
</xref>
<xref ref-type="author-notes" rid="fn1"><sup>¶</sup>
</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
<addr-line>Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel</addr-line>
</aff>
<aff id="aff2"><label>2</label>
<addr-line>Department of Dental Hygiene, Eulji University, Seongnam, Gyeonggi-do, Korea</addr-line>
</aff>
<aff id="aff3"><label>3</label>
<addr-line>Department of Diagnostic Radiology, Seoul National University College of Medicine, Seoul, Korea</addr-line>
</aff>
<aff id="aff4"><label>4</label>
<addr-line>Department of Anatomy, Seoul National University College of Medicine, Seoul, Korea</addr-line>
</aff>
<aff id="aff5"><label>5</label>
<addr-line>Institute of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea</addr-line>
</aff>
<aff id="aff6"><label>6</label>
<addr-line>Department of Forensic Science, Seoul National University College of Medicine, Seoul, Korea</addr-line>
</aff>
<aff id="aff7"><label>7</label>
<addr-line>D-REAMS Radiocarbon Dating Laboratory, Weizmann Institute of Science, Rehovot, Israel</addr-line>
</aff>
<aff id="aff8"><label>8</label>
<addr-line>Department of Anatomy, Ewha Womans University School of Medicine, Seoul, Korea</addr-line>
</aff>
<aff id="aff9"><label>9</label>
<addr-line>Department of Radiology, Carmel Medical Center, Haifa, Israel</addr-line>
</aff>
<aff id="aff10"><label>10</label>
<addr-line>Department of Anatomy, Dankook University College of Medicine, Yongin-si, Gyeonggi-do, Korea</addr-line>
</aff>
<aff id="aff11"><label>11</label>
<addr-line>Department of Radiology, Maimonides Medical Center, Brooklyn, New York, United States of America</addr-line>
</aff>
<aff id="aff12"><label>12</label>
<addr-line>Department of Virology, Koret School of Veterinary Medicine, Hebrew University of Jerusalem, Rehovot, Israel</addr-line>
</aff>
<contrib-group><contrib contrib-type="editor"><name><surname>Rosenberg</surname>
<given-names>Karen</given-names>
</name>
<role>Editor</role>
<xref ref-type="aff" rid="edit1"></xref>
</contrib>
</contrib-group>
<aff id="edit1"><addr-line>University of Delaware, United States of America</addr-line>
</aff>
<author-notes><corresp id="cor1">* E-mail: <email>anatom2@post.tau.ac.il</email>
(IH); <email>cuteminjae@gmail.com</email>
(DHS)</corresp>
<fn fn-type="conflict"><p><bold>Competing Interests: </bold>
The authors have declared that no competing interests exist.</p>
</fn>
<fn fn-type="con"><p>Conceived and designed the experiments: IH MS DHS. Performed the experiments: DSL ISL HM EB SDL NP MJK TT GKB. Analyzed the data: IH DHS CSO YSK RS. Contributed reagents/materials/analysis tools: GKB. Wrote the paper: IH DHS.</p>
</fn>
<fn id="fn1" fn-type="other"><p>¶ IH and DHS are first authors on this work.</p>
</fn>
</author-notes>
<pub-date pub-type="collection"><year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>5</day>
<month>8</month>
<year>2014</year>
</pub-date>
<volume>9</volume>
<issue>8</issue>
<elocation-id>e102441</elocation-id>
<history><date date-type="received"><day>6</day>
<month>9</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>26</day>
<month>5</month>
<year>2014</year>
</date>
</history>
<permissions><copyright-year>2014</copyright-year>
<copyright-holder>Hershkovitz et al</copyright-holder>
<license><license-p>This is an open-access article distributed under the terms of the <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution License</ext-link>
, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</license-p>
</license>
</permissions>
<abstract><p>Cherubism is a benign fibro-osseous disease of childhood limited specifically to the maxilla and mandible. The progressive replacement of the jaw bones with expansile multilocular cystic lesions causes eventual prominence of the lower face, and hence the classic “cherubic” phenotype reflecting variable extents of jaw hypertrophy. Histologically, this condition has been characterized as replacement of the normal bone matrix with multicystic pockets of fibrous stroma and osteoclastic giant cells. Because of radiographic features common to both, primarily the presence of multiloculated lucencies with heterogeneous “ground-glass” sclerosis on CT imaging, cherubism was long mistaken for a craniofacial subtype of fibrous dysplasia. In 1999, however, the distinct genetic basis for cherubism was mapped to chromosome 4p16.3 and the SH-3 binding protein SH3BP2. But while there are already three suspected cases of fibrous dysplasia amongst archaeological populations, no definitive cases of cherubism have yet been reported in historical populations. In the current study we describe micro- and macro-structural changes in the face of a 17<sup>th</sup>
century Joseon Dynasty Korean mummy which may coincide with the clinic-pathologic and radiologic features of cherubism.</p>
</abstract>
<funding-group><funding-statement>This study was supported by the Dan David Foundation, The Tassia and Dr. Joseph Meychan Chair for the History and Philosophy of Medicine, Tel Aviv University, the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2013R1A1A2009688), and by the Conservation Technology Research and Development project (National Research Institute of Cultural Heritage of Cultural Heritage Administration 10D015Y-00110-2010). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.</funding-statement>
</funding-group>
<counts><page-count count="15"></page-count>
</counts>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Corée du Sud</li>
<li>Israël</li>
<li>États-Unis</li>
</country>
<region><li>État de New York</li>
</region>
<settlement><li>Séoul</li>
</settlement>
</list>
<tree><country name="Israël"><noRegion><name sortKey="Hershkovitz, Israel" sort="Hershkovitz, Israel" uniqKey="Hershkovitz I" first="Israel" last="Hershkovitz">Israel Hershkovitz</name>
</noRegion>
<name sortKey="Bar Gal, Gila Kahila" sort="Bar Gal, Gila Kahila" uniqKey="Bar Gal G" first="Gila Kahila" last="Bar-Gal">Gila Kahila Bar-Gal</name>
<name sortKey="Boaretto, Elisabetta" sort="Boaretto, Elisabetta" uniqKey="Boaretto E" first="Elisabetta" last="Boaretto">Elisabetta Boaretto</name>
<name sortKey="May, Hila" sort="May, Hila" uniqKey="May H" first="Hila" last="May">Hila May</name>
<name sortKey="Peled, Nathan" sort="Peled, Nathan" uniqKey="Peled N" first="Nathan" last="Peled">Nathan Peled</name>
<name sortKey="Sarig, Rachel" sort="Sarig, Rachel" uniqKey="Sarig R" first="Rachel" last="Sarig">Rachel Sarig</name>
<name sortKey="Spigelman, Mark" sort="Spigelman, Mark" uniqKey="Spigelman M" first="Mark" last="Spigelman">Mark Spigelman</name>
</country>
<country name="Corée du Sud"><noRegion><name sortKey="Lim, Do Sun" sort="Lim, Do Sun" uniqKey="Lim D" first="Do-Sun" last="Lim">Do-Sun Lim</name>
</noRegion>
<name sortKey="Kim, Myeung Ju" sort="Kim, Myeung Ju" uniqKey="Kim M" first="Myeung Ju" last="Kim">Myeung Ju Kim</name>
<name sortKey="Kim, Yi Suk" sort="Kim, Yi Suk" uniqKey="Kim Y" first="Yi-Suk" last="Kim">Yi-Suk Kim</name>
<name sortKey="Lee, In Sun" sort="Lee, In Sun" uniqKey="Lee I" first="In Sun" last="Lee">In Sun Lee</name>
<name sortKey="Lee, Soong Deok" sort="Lee, Soong Deok" uniqKey="Lee S" first="Soong Deok" last="Lee">Soong Deok Lee</name>
<name sortKey="Lee, Soong Deok" sort="Lee, Soong Deok" uniqKey="Lee S" first="Soong Deok" last="Lee">Soong Deok Lee</name>
<name sortKey="Oh, Chang Seok" sort="Oh, Chang Seok" uniqKey="Oh C" first="Chang Seok" last="Oh">Chang Seok Oh</name>
<name sortKey="Oh, Chang Seok" sort="Oh, Chang Seok" uniqKey="Oh C" first="Chang Seok" last="Oh">Chang Seok Oh</name>
<name sortKey="Shin, Dong Hoon" sort="Shin, Dong Hoon" uniqKey="Shin D" first="Dong Hoon" last="Shin">Dong Hoon Shin</name>
<name sortKey="Shin, Dong Hoon" sort="Shin, Dong Hoon" uniqKey="Shin D" first="Dong Hoon" last="Shin">Dong Hoon Shin</name>
</country>
<country name="États-Unis"><region name="État de New York"><name sortKey="Toledano, Talya" sort="Toledano, Talya" uniqKey="Toledano T" first="Talya" last="Toledano">Talya Toledano</name>
</region>
</country>
</tree>
</affiliations>
</record>
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