Papillon-Lefèvre syndrome: Case report and review of the literature
Identifieur interne : 004168 ( Ncbi/Merge ); précédent : 004167; suivant : 004169Papillon-Lefèvre syndrome: Case report and review of the literature
Auteurs : Fayiza Yaqoob Khan ; Suhail Majid Jan ; Mubashir MushtaqSource :
- Journal of Indian Society of Periodontology [ 0972-124X ] ; 2012.
Abstract
Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. Severe generalized periodontal destruction with mobility of teeth was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.
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DOI: 10.4103/0972-124X.99273
PubMed: 23055596
PubMed Central: 3459510
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Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. 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uniqKey="Preus H">H Preus</name></author><author><name sortKey="Gjermo, P" uniqKey="Gjermo P">P Gjermo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gelmetti, C" uniqKey="Gelmetti C">C Gelmetti</name></author><author><name sortKey="Nazzaro, V" uniqKey="Nazzaro V">V Nazzaro</name></author><author><name sortKey="Cerri, D" uniqKey="Cerri D">D Cerri</name></author><author><name sortKey="Fracasso, L" uniqKey="Fracasso L">L Fracasso</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Almuneef, M" uniqKey="Almuneef M">M Almuneef</name></author><author><name sortKey="Al Khenaizan, S" uniqKey="Al Khenaizan S">S Al Khenaizan</name></author><author><name sortKey="Al Ajaji, S" uniqKey="Al Ajaji S">S Al Ajaji</name></author><author><name sortKey="Al Anazi, A" uniqKey="Al Anazi A">A Al-Anazi</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Indian Soc Periodontol</journal-id><journal-id journal-id-type="iso-abbrev">J Indian Soc Periodontol</journal-id><journal-id journal-id-type="publisher-id">JISP</journal-id><journal-title-group><journal-title>Journal of Indian Society of Periodontology</journal-title></journal-title-group><issn pub-type="ppub">0972-124X</issn><issn pub-type="epub">0975-1580</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23055596</article-id><article-id pub-id-type="pmc">3459510</article-id><article-id pub-id-type="publisher-id">JISP-16-261</article-id><article-id pub-id-type="doi">10.4103/0972-124X.99273</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Papillon-Lefèvre syndrome: Case report and review of the literature</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Khan</surname><given-names>Fayiza Yaqoob</given-names></name><xref ref-type="aff" rid="aff1"></xref><xref ref-type="corresp" rid="cor1"></xref></contrib><contrib contrib-type="author"><name><surname>Jan</surname><given-names>Suhail Majid</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Mushtaq</surname><given-names>Mubashir</given-names></name><xref ref-type="aff" rid="aff1"></xref></contrib></contrib-group><aff id="aff1"><italic>Department of Periodontics and Oral Implantology, Government Dental College and Hospital, Srinagar, Jammu and Kashmir, India</italic></aff><author-notes><corresp id="cor1"><bold>Address for correspondence:</bold> Dr. Fayiza Yaqoob Khan, Department of Periodontics and Oral Implantology, Government Dental College, Srinagar, Jammu and Kashmir, India E-mail: <email xlink:href="khanfaiza005@gmail.com">khanfaiza005@gmail.com</email></corresp></author-notes><pub-date pub-type="ppub"><season>Apr-Jun</season><year>2012</year></pub-date><volume>16</volume><issue>2</issue><fpage>261</fpage><lpage>265</lpage><history><date date-type="received"><day>16</day><month>6</month><year>2010</year></date><date date-type="accepted"><day>09</day><month>1</month><year>2012</year></date></history><permissions><copyright-statement>Copyright: © Journal of Indian Society of Periodontology</copyright-statement><copyright-year>2012</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. Severe generalized periodontal destruction with mobility of teeth was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.</p></abstract><kwd-group><kwd>Hyperkeratosis</kwd><kwd>Papillon-Lefèvre syndrome</kwd><kwd>periodontitis</kwd></kwd-group></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Jan, Suhail Majid" sort="Jan, Suhail Majid" uniqKey="Jan S" first="Suhail Majid" last="Jan">Suhail Majid Jan</name><name sortKey="Khan, Fayiza Yaqoob" sort="Khan, Fayiza Yaqoob" uniqKey="Khan F" first="Fayiza Yaqoob" last="Khan">Fayiza Yaqoob Khan</name><name sortKey="Mushtaq, Mubashir" sort="Mushtaq, Mubashir" uniqKey="Mushtaq M" first="Mubashir" last="Mushtaq">Mubashir Mushtaq</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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