Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases
Identifieur interne : 004B94 ( Ncbi/Merge ); précédent : 004B93; suivant : 004B95Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases
Auteurs : Kaustubh Suresh Thakare [Inde] ; M. L. Bhongade [Inde] ; Pretti Charde [Inde] ; Shweta Kale [Inde] ; Priyanka Jaiswal [Inde] ; B. K. Somnath [Inde] ; Sunil Pendor [Inde]Source :
- Case Reports in Dentistry [ 2090-6447 ] ; 2013.
Abstract
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.
Url:
DOI: 10.1155/2013/404120
PubMed: 24303219
PubMed Central: 3834890
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<front><div type="abstract" xml:lang="en"><p>Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.</p>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Case Rep Dent</journal-id>
<journal-id journal-id-type="iso-abbrev">Case Rep Dent</journal-id>
<journal-id journal-id-type="publisher-id">CRIM.DENTISTRY</journal-id>
<journal-title-group><journal-title>Case Reports in Dentistry</journal-title>
</journal-title-group>
<issn pub-type="ppub">2090-6447</issn>
<issn pub-type="epub">2090-6455</issn>
<publisher><publisher-name>Hindawi Publishing Corporation</publisher-name>
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<article-id pub-id-type="pmc">3834890</article-id>
<article-id pub-id-type="doi">10.1155/2013/404120</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Thakare</surname>
<given-names>Kaustubh Suresh</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
<xref ref-type="corresp" rid="cor1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bhongade</surname>
<given-names>M. L.</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Charde</surname>
<given-names>Pretti</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kale</surname>
<given-names>Shweta</given-names>
</name>
<xref ref-type="aff" rid="I2"><sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jaiswal</surname>
<given-names>Priyanka</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Somnath</surname>
<given-names>B. K.</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pendor</surname>
<given-names>Sunil</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
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<aff id="I1"><sup>1</sup>
Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India</aff>
<aff id="I2"><sup>2</sup>
Department of Prosthodontics, Sharad Pawar Dental College and Hospital, Wardha, Maharastra 442001, India</aff>
<author-notes><corresp id="cor1">*Kaustubh Suresh Thakare: <email>kaustubhthakaremds@gmail.com</email>
</corresp>
<fn fn-type="other"><p>Academic Editors: P. Lopez Jornet and E. F. Wright</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>4</day>
<month>11</month>
<year>2013</year>
</pub-date>
<volume>2013</volume>
<elocation-id>404120</elocation-id>
<history><date date-type="received"><day>10</day>
<month>7</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>25</day>
<month>9</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2013 Kaustubh Suresh Thakare et al.</copyright-statement>
<copyright-year>2013</copyright-year>
<license xlink:href="https://creativecommons.org/licenses/by/3.0/"><license-p>This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
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<abstract><p>Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.</p>
</abstract>
</article-meta>
</front>
<floats-group><fig id="fig1" orientation="portrait" position="float"><label>Figure 1</label>
<caption><p>Plantar keratosis.</p>
</caption>
<graphic xlink:href="CRIM.DENTISTRY2013-404120.001"></graphic>
</fig>
<fig id="fig2" orientation="portrait" position="float"><label>Figure 2</label>
<caption><p>Palmar keratosis.</p>
</caption>
<graphic xlink:href="CRIM.DENTISTRY2013-404120.002"></graphic>
</fig>
<fig id="fig3" orientation="portrait" position="float"><label>Figure 3</label>
<caption><p>Initial clinical appearance with severe gingival inflammation and loss of several teeth.</p>
</caption>
<graphic xlink:href="CRIM.DENTISTRY2013-404120.003"></graphic>
</fig>
<fig id="fig4" orientation="portrait" position="float"><label>Figure 4</label>
<caption><p>Initial clinical appearance with severe gingival inflammation and loss of several teeth.</p>
</caption>
<graphic xlink:href="CRIM.DENTISTRY2013-404120.004"></graphic>
</fig>
<fig id="fig5" orientation="portrait" position="float"><label>Figure 5</label>
<caption><p>Panoramic radiograph showing “floating teeth appearance.” </p>
</caption>
<graphic xlink:href="CRIM.DENTISTRY2013-404120.005"></graphic>
</fig>
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<tree><country name="Inde"><noRegion><name sortKey="Thakare, Kaustubh Suresh" sort="Thakare, Kaustubh Suresh" uniqKey="Thakare K" first="Kaustubh Suresh" last="Thakare">Kaustubh Suresh Thakare</name>
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<name sortKey="Bhongade, M L" sort="Bhongade, M L" uniqKey="Bhongade M" first="M. L." last="Bhongade">M. L. Bhongade</name>
<name sortKey="Charde, Pretti" sort="Charde, Pretti" uniqKey="Charde P" first="Pretti" last="Charde">Pretti Charde</name>
<name sortKey="Jaiswal, Priyanka" sort="Jaiswal, Priyanka" uniqKey="Jaiswal P" first="Priyanka" last="Jaiswal">Priyanka Jaiswal</name>
<name sortKey="Kale, Shweta" sort="Kale, Shweta" uniqKey="Kale S" first="Shweta" last="Kale">Shweta Kale</name>
<name sortKey="Pendor, Sunil" sort="Pendor, Sunil" uniqKey="Pendor S" first="Sunil" last="Pendor">Sunil Pendor</name>
<name sortKey="Somnath, B K" sort="Somnath, B K" uniqKey="Somnath B" first="B. K." last="Somnath">B. K. Somnath</name>
</country>
</tree>
</affiliations>
</record>
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