Papillon-Lefèvre syndrome: Case report and review of the literature
Identifieur interne : 001E07 ( Pmc/Corpus ); précédent : 001E06; suivant : 001E08Papillon-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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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Papillon-Lefèvre syndrome: Case report and review of the literature</title><author><name sortKey="Khan, Fayiza Yaqoob" sort="Khan, Fayiza Yaqoob" uniqKey="Khan F" first="Fayiza Yaqoob" last="Khan">Fayiza Yaqoob Khan</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Jan, Suhail Majid" sort="Jan, Suhail Majid" uniqKey="Jan S" first="Suhail Majid" last="Jan">Suhail Majid Jan</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Mushtaq, Mubashir" sort="Mushtaq, Mubashir" uniqKey="Mushtaq M" first="Mubashir" last="Mushtaq">Mubashir Mushtaq</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23055596</idno><idno type="pmc">3459510</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459510</idno><idno type="RBID">PMC:3459510</idno><idno type="doi">10.4103/0972-124X.99273</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001E07</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E07</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Papillon-Lefèvre syndrome: Case report and review of the literature</title><author><name sortKey="Khan, Fayiza Yaqoob" sort="Khan, Fayiza Yaqoob" uniqKey="Khan F" first="Fayiza Yaqoob" last="Khan">Fayiza Yaqoob Khan</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Jan, Suhail Majid" sort="Jan, Suhail Majid" uniqKey="Jan S" first="Suhail Majid" last="Jan">Suhail Majid Jan</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Mushtaq, Mubashir" sort="Mushtaq, Mubashir" uniqKey="Mushtaq M" first="Mubashir" last="Mushtaq">Mubashir Mushtaq</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author></analytic><series><title level="j">Journal of Indian Society of Periodontology</title><idno type="ISSN">0972-124X</idno><idno type="eISSN">0975-1580</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><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></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Papillon, Mm" uniqKey="Papillon M">MM Papillon</name></author><author><name sortKey="Lefevre, P" uniqKey="Lefevre P">P Lefèvre</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gorlin, Rj" uniqKey="Gorlin R">RJ Gorlin</name></author><author><name sortKey="Cohen, Mm" uniqKey="Cohen M">MM Cohen</name></author><author><name sortKey="Levin, Ls" uniqKey="Levin L">LS Levin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hall, Rk" uniqKey="Hall R">RK Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kressin, S" uniqKey="Kressin S">S Kressin</name></author><author><name sortKey="Herforth, A" uniqKey="Herforth A">A Herforth</name></author><author><name sortKey="Preis, S" uniqKey="Preis S">S Preis</name></author><author><name sortKey="Wahn, V" uniqKey="Wahn V">V Wahn</name></author><author><name sortKey="Lenard, Hg" uniqKey="Lenard H">HG Lenard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wara Aswapati, N" uniqKey="Wara Aswapati N">N Wara-Aswapati</name></author><author><name sortKey="Lertsirivorakul, J" uniqKey="Lertsirivorakul J">J Lertsirivorakul</name></author><author><name sortKey="Nagasawa, T" uniqKey="Nagasawa T">T Nagasawa</name></author><author><name sortKey="Kawashima, Y" uniqKey="Kawashima Y">Y Kawashima</name></author><author><name sortKey="Ishikawa, I" uniqKey="Ishikawa I">I Ishikawa</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lundgren, T" uniqKey="Lundgren T">T Lundgren</name></author><author><name sortKey="Crossner, Cg" uniqKey="Crossner C">CG Crossner</name></author><author><name sortKey="Twetman, S" uniqKey="Twetman S">S Twetman</name></author><author><name sortKey="Ullbro, C" uniqKey="Ullbro C">C Ullbro</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hart, Tc" uniqKey="Hart T">TC Hart</name></author><author><name sortKey="Hart, Ps" uniqKey="Hart P">PS Hart</name></author><author><name sortKey="Bowden, Dw" uniqKey="Bowden D">DW Bowden</name></author><author><name sortKey="Michalec, Md" uniqKey="Michalec M">MD Michalec</name></author><author><name sortKey="Callison, Sa" uniqKey="Callison S">SA Callison</name></author><author><name sortKey="Walker, Sj" uniqKey="Walker S">SJ Walker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Toomes, C" uniqKey="Toomes C">C Toomes</name></author><author><name sortKey="James, J" uniqKey="James J">J James</name></author><author><name sortKey="Wood, Aj" uniqKey="Wood A">AJ Wood</name></author><author><name sortKey="Wu, Cl" uniqKey="Wu C">CL Wu</name></author><author><name sortKey="Mccormick, D" uniqKey="Mccormick D">D McCormick</name></author><author><name sortKey="Lench, N" uniqKey="Lench N">N Lench</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hart, Ps" uniqKey="Hart P">PS Hart</name></author><author><name sortKey="Zhang, Y" uniqKey="Zhang Y">Y Zhang</name></author><author><name sortKey="Firatli, E" uniqKey="Firatli E">E Firatli</name></author><author><name sortKey="Uygur, C" uniqKey="Uygur C">C Uygur</name></author><author><name sortKey="Lotfazar, M" uniqKey="Lotfazar M">M Lotfazar</name></author><author><name sortKey="Michalec, Md" uniqKey="Michalec M">MD Michalec</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="D Ngelo, A" uniqKey="D Ngelo A">A D’Angelo</name></author><author><name sortKey="Margiotta, V" uniqKey="Margiotta V">V Margiotta</name></author><author><name sortKey="Ammatuma, P" uniqKey="Ammatuma P">P Ammatuma</name></author><author><name sortKey="Sammartano, F" uniqKey="Sammartano F">F Sammartano</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brown, Rs" uniqKey="Brown R">RS Brown</name></author><author><name sortKey="Hays, G" uniqKey="Hays G">G Hays</name></author><author><name sortKey="Flaitz, Cm" uniqKey="Flaitz C">CM Flaitz</name></author><author><name sortKey="O Eill, Pa" uniqKey="O Eill P">PA O’Neill</name></author><author><name sortKey="Abramovitch, K" uniqKey="Abramovitch K">K Abramovitch</name></author><author><name sortKey="White, Rr" uniqKey="White R">RR White</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tinanoff, N" uniqKey="Tinanoff N">N Tinanoff</name></author><author><name sortKey="Tempro, P" uniqKey="Tempro P">P Tempro</name></author><author><name sortKey="Maderazo, Eg" uniqKey="Maderazo E">EG Maderazo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fqratlq, E" uniqKey="Fqratlq E">E FQratlQ</name></author><author><name sortKey="Gurel, N" uniqKey="Gurel N">N Gurel</name></author><author><name sortKey="Efeoglu, A" uniqKey="Efeoglu A">A Efeoglu</name></author><author><name sortKey="Badur, S" uniqKey="Badur S">S Badur</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ghaffer, Ka" uniqKey="Ghaffer K">KA Ghaffer</name></author><author><name sortKey="Zahran, Fm" uniqKey="Zahran F">FM Zahran</name></author><author><name sortKey="Fahmy, Hm" uniqKey="Fahmy H">HM Fahmy</name></author><author><name sortKey="Brown, Rs" uniqKey="Brown R">RS Brown</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Liu, R" uniqKey="Liu R">R Liu</name></author><author><name sortKey="Cao, C" uniqKey="Cao C">C Cao</name></author><author><name sortKey="Meng, H" uniqKey="Meng H">H Meng</name></author><author><name sortKey="Tang, Z" uniqKey="Tang Z">Z Tang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lyberg, T" uniqKey="Lyberg T">T Lyberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schroeder, He" uniqKey="Schroeder H">HE Schroeder</name></author><author><name sortKey="Seger, Ra" uniqKey="Seger R">RA Seger</name></author><author><name sortKey="Keller, Hu" uniqKey="Keller H">HU Keller</name></author><author><name sortKey="Rateitschak Pluss, Em" uniqKey="Rateitschak Pluss E">EM Rateitschak- Plüss</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hathway, R" uniqKey="Hathway R">R Hathway</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bimstein, E" uniqKey="Bimstein E">E Bimstein</name></author><author><name sortKey="Lustmann, J" uniqKey="Lustmann J">J Lustmann</name></author><author><name sortKey="Sela, Mn" uniqKey="Sela M">MN Sela</name></author><author><name sortKey="Neriah, Zb" uniqKey="Neriah Z">ZB Neriah</name></author><author><name sortKey="Soskolne, Wa" uniqKey="Soskolne W">WA Soskolne</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hattab, Fn" uniqKey="Hattab F">FN Hattab</name></author><author><name sortKey="Rawashdeh, Mr" uniqKey="Rawashdeh M">MR Rawashdeh</name></author><author><name sortKey="Yassin, Om" uniqKey="Yassin O">OM Yassin</name></author><author><name sortKey="Al Momani, As" uniqKey="Al Momani A">AS Al-Momani</name></author><author><name sortKey="Al Ubosi, Mm" uniqKey="Al Ubosi M">MM Al-Ubosi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rateitschak Pluss, Em" uniqKey="Rateitschak Pluss E">EM Rateitschak-Plüss</name></author><author><name sortKey="Schroeder, He" uniqKey="Schroeder H">HE Schroeder</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Glenwright, Hd" uniqKey="Glenwright H">HD Glenwright</name></author><author><name sortKey="Rock, Wp" uniqKey="Rock W">WP Rock</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bullon, P" uniqKey="Bullon P">P Bullon</name></author><author><name sortKey="Pascual, A" uniqKey="Pascual A">A Pascual</name></author><author><name sortKey="Fernandez Novoa, Mc" uniqKey="Fernandez Novoa M">MC Fernandez-Novoa</name></author><author><name sortKey="Borobio, Mv" uniqKey="Borobio M">MV Borobio</name></author><author><name sortKey="Muniain, Ma" uniqKey="Muniain M">MA Muniain</name></author><author><name sortKey="Camacho, F" uniqKey="Camacho F">F Camacho</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Vree, H" uniqKey="De Vree H">H De Vree</name></author><author><name sortKey="Steenackers, K" uniqKey="Steenackers K">K Steenackers</name></author><author><name sortKey="De Boever, Ja" uniqKey="De Boever J">JA de Boever</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Van Dyke, Te" uniqKey="Van Dyke T">TE Van Dyke</name></author><author><name sortKey="Taubman, Ma" uniqKey="Taubman M">MA Taubman</name></author><author><name sortKey="Ebersole, Jl" uniqKey="Ebersole J">JL Ebersole</name></author><author><name sortKey="Haffajee, Ad" uniqKey="Haffajee A">AD Haffajee</name></author><author><name sortKey="Socransky, Ss" uniqKey="Socransky S">SS Socransky</name></author><author><name sortKey="Smith, Dj" uniqKey="Smith D">DJ Smith</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sagllie, Fr" uniqKey="Sagllie F">FR Sagllie</name></author><author><name sortKey="Marfany, A" uniqKey="Marfany A">A Marfany</name></author><author><name sortKey="Camargo, P" uniqKey="Camargo P">P Camargo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stabholz, A" uniqKey="Stabholz A">A Stabholz</name></author><author><name sortKey="Taichman, S" uniqKey="Taichman S">S Taichman</name></author><author><name sortKey="Soskolne, Wa" uniqKey="Soskolne W">WA Soskolne</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Firatli, E" uniqKey="Firatli E">E Firatli</name></author><author><name sortKey="Gurel, N" uniqKey="Gurel N">N Gurel</name></author><author><name sortKey="Efeoglu, A" uniqKey="Efeoglu A">A Efeoglu</name></author><author><name sortKey="Badur, S" uniqKey="Badur S">S Badur</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hart, Tc" uniqKey="Hart T">TC Hart</name></author><author><name sortKey="Hart, Ps" uniqKey="Hart P">PS Hart</name></author><author><name sortKey="Bowden, Dw" uniqKey="Bowden D">DW Bowden</name></author><author><name sortKey="Michalec, Md" uniqKey="Michalec M">MD Michalec</name></author><author><name sortKey="Callison, Sa" uniqKey="Callison S">SA Callison</name></author><author><name sortKey="Walker, Sj" uniqKey="Walker S">SJ Walker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Preus, H" 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 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<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><body><sec id="sec1-1"><title>INTRODUCTION</title><p>Papillon–Lefèvre syndrome (PLS) is characterized by hyperkeratosis of hands and feet and by a generalized aggressive periodontitis in both the primary and the permanent dentition.[<xref ref-type="bibr" rid="ref1">1</xref>] The syndrome is a rare autosomal recessive trait with an estimated prevalence of one to four cases per million persons. Parental consanguinity is demonstrated in 20% to 40% of the cases.[<xref ref-type="bibr" rid="ref1">1</xref>] Calcification of the falx cerebri and the choroid plexus, and retardation of somatic development is often an associated feature.[<xref ref-type="bibr" rid="ref2">2</xref>–<xref ref-type="bibr" rid="ref4">4</xref>] It has been suggested that 20–25% of such patients show an increased susceptibility to infections,[<xref ref-type="bibr" rid="ref1">1</xref><xref ref-type="bibr" rid="ref3">3</xref><xref ref-type="bibr" rid="ref5">5</xref>] of which otitis media is a common example.[<xref ref-type="bibr" rid="ref6">6</xref>] The recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C.[<xref ref-type="bibr" rid="ref7">7</xref><xref ref-type="bibr" rid="ref8">8</xref>] Studies in PLS patients have shown more than 90% reduction in cathepsin C activity.[<xref ref-type="bibr" rid="ref8">8</xref><xref ref-type="bibr" rid="ref9">9</xref>] The cathepsin C gene encodes a cysteine-lysosomal protease also known as <italic>dipeptidyl-peptidase</italic> I, which functions to remove dipeptides from the amino terminus of the protein substrate. It also has an endopeptidase activity. The cathepsin-C gene is expressed mainly in the epithelial regions such as palms, soles, knees, and keratinized oral gingiva. These are generally the areas that are mostcommonly affected by PLS. This gene is also expressed at high levels in various immune cells including polymorphonuclear leukocytes, macrophages, and their precursors. All PLS patients are homozygous for the cathepsin-C mutations inherited from a common ancestor. Parents and siblings, heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS.[<xref ref-type="bibr" rid="ref7">7</xref>] Despite these advances in characterizing the genetic basis of the syndrome, the pathogenic mechanisms leading to the periodontal involvement remain elusive. An impaired chemotatic and phagocytic function of polymorphonuclear leukocytes (PMNs) and impaired reactivity to T- and B-cell mitogens has been described in many reports.[<xref ref-type="bibr" rid="ref10">10</xref>–<xref ref-type="bibr" rid="ref17">17</xref>] Periodontal effects appear almost immediately after tooth eruption when gingiva becomes erythematous and oedematous. Plaque accumulates in the deep crevices and halitosis can ensue. The primary incisors are usually affected first and can display marked mobility by the age of three years. By the age of four or five years, all the primary teeth may have exfoliated.[<xref ref-type="bibr" rid="ref1">1</xref><xref ref-type="bibr" rid="ref4">4</xref>] Treatment with oral hygiene instructions, scaling, and root planing has been reported unsuccessful.[<xref ref-type="bibr" rid="ref18">18</xref>–<xref ref-type="bibr" rid="ref20">20</xref>] Non-surgical treatment combined with the use of systemic antibiotics[<xref ref-type="bibr" rid="ref21">21</xref>–<xref ref-type="bibr" rid="ref24">24</xref>] and additional periodontal surgery[<xref ref-type="bibr" rid="ref23">23</xref><xref ref-type="bibr" rid="ref25">25</xref>] has also been reported to fail. Following the deciduous tooth loss, the gingival appearance resolves and may well return to health only for the process to be repeated as the permanent dentition starts to erupt.[<xref ref-type="bibr" rid="ref1">1</xref>] The majority of teeth are lost by the age of 14–15 years.[<xref ref-type="bibr" rid="ref1">1</xref><xref ref-type="bibr" rid="ref4">4</xref><xref ref-type="bibr" rid="ref5">5</xref>] There is a dramatic alveolar bone destruction, often leaving the jaws atrophied. Patients are often edentulous at an early age.[<xref ref-type="bibr" rid="ref5">5</xref>] We hereby report two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features of the syndrome.</p></sec><sec id="sec1-2"><title>CASE REPORTS</title><sec id="sec2-1"><title>Case history</title><p>An 11-year-old girl (Case 1), and her elder sister, a 13-year-old girl (case 2), reported to the Department of Periodontics, Govt. Dental College and Hospital, Srinagar, with complaints of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also complained of persistent thickening, flaking and scaling of the skin of palms and soles. Both patients also had premature shedding of their deciduous teeth. The remainder of their past medical history was unremarkable. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Pregnancy and delivery were normal.</p></sec><sec id="sec2-2"><title>General and extra-oral examination</title><p>Both the patients had overall normal physical and mental development. Extra-oral examination of case 1 revealed yellowish, keratotic, confluent plaques affecting the skin of her palms and soles. Her nails and hair were normal. Extra-oral examination of case 2 revealed symmetric, well-demarcated, yellowish, keratotic, confluent plaques affecting the skin of her palms and soles and extending onto the dorsal surfaces. Her nails were discolored, but her hair was normal. Well-circumscribed, psoriasiform, erythematous, scaly plaques were present on the knees bilaterally [Figures <xref ref-type="fig" rid="F1">1</xref> and <xref ref-type="fig" rid="F2">2</xref>].</p><fig id="F1" position="float"><label>Figure 1</label><caption><p>(a) Case 1 presenting with yellowish, keratotic, confluent plaques affecting the skin of palmar surfaces of hands; (b) Case 1 presenting with keratotic plaques on the dorsal surfaces of hands; (c) Keratotic plaques affecting the dorsal surface of feet; (d) Several confluent plaques on soles</p></caption><graphic xlink:href="JISP-16-261-g001"></graphic></fig><fig id="F2" position="float"><label>Figure 2</label><caption><p>(a) Case 2 presenting with keratotic, confluent plaques affecting the skin of palmar surfaces of hands; Keratotic plaques affecting the dorsal surfaces of hands; (c) Plaques affecting the dorsal surfaces of feet; (d) Several confluent plaques affecting the soles; (e) In case 2, well-circumscribed, erythematous, scaly plaques on the knees bilaterally are also noticed</p></caption><graphic xlink:href="JISP-16-261-g002"></graphic></fig></sec><sec id="sec2-3"><title>Intraoral examination</title><p>On intraoral examination of case 1, upper left permanent central incisors, lower left permanent central and lateral incisors were missing. Severe gingival inflammation, abscess formation, and deep periodontal pockets were noticed. Severe mobility affecting all the teeth, with heavy deposits of plaque and calculus and halitosis were also present [<xref ref-type="fig" rid="F3">Figure 3</xref>].</p><fig id="F3" position="float"><label>Figure 3</label><caption><p>Intraoral examination of case 1 showing missing upper left permanent central incisor, lower left permanent central and lateral incisors and permanent right lower central incisor. Severe gingival inflammation, abscess formation, and deep periodontal pockets were noticed. Severe mobility affecting all the teeth, with heavy deposits of plaque and calculus and halitosis, were also present</p></caption><graphic xlink:href="JISP-16-261-g003"></graphic></fig><p>Intraoral examination of case 2 showed deep periodontal pockets, gingival inflammation, and mobility of lower anterior teeth [<xref ref-type="fig" rid="F4">Figure 4</xref>]. All primary teeth were exfoliated and no tooth was missing.</p><fig id="F4" position="float"><label>Figure 4</label><caption><p>Intraoral examination of case 2 showing deep periodontal pockets, gingival inflammation, and mobility of lower anterior teeth</p></caption><graphic xlink:href="JISP-16-261-g004"></graphic></fig></sec><sec id="sec2-4"><title>Radiographic finding</title><p>Orthopantomographic examination of case 1 showed severe generalized destruction of alveolar bone. The mandibular right first molar was almost entirely out of its socket and was almost without bone support [<xref ref-type="fig" rid="F5">Figure 5</xref>]. Case 2 showed generalized loss of alveolar bone [<xref ref-type="fig" rid="F6">Figure 6</xref>].</p><fig id="F5" position="float"><label>Figure 5</label><caption><p>OPG of case 1 showing severe generalized destruction of alveolar bone. The mandibular right first molar was almost entirely out of its socket with not much bone support</p></caption><graphic xlink:href="JISP-16-261-g005"></graphic></fig><fig id="F6" position="float"><label>Figure 6</label><caption><p>OPG of case 2 showing generalized destruction of alveolar bone. See the severe periodontal destruction in upper right first molar</p></caption><graphic xlink:href="JISP-16-261-g006"></graphic></fig><p>On lateral skull radiograph, there was no evidence of intracranial calcification in both the patients [<xref ref-type="fig" rid="F7">Figure 7</xref>].</p><fig id="F7" position="float"><label>Figure 7</label><caption><p>Lateral skull view of case 1 showing no evidence of intracranial calcification</p></caption><graphic xlink:href="JISP-16-261-g007"></graphic></fig></sec><sec id="sec2-5"><title>Laboratory investigation</title><p>Laboratory investigation was carried out, which included hematological and biochemical assessment. The results were within normal limits.</p></sec><sec id="sec2-6"><title>Diagnosis</title><p>In view of the above findings, the cases were diagnosed as PLS.</p></sec></sec><sec sec-type="discussion" id="sec1-3"><title>DISCUSSION</title><p>PLS can adversely affect growing children psychologically, socially, and esthetically. Hence, an early dental evaluation and parental counseling as a part of preventive dental treatment is essential for providing complete psychosocial rehabilitation for PLS children; a multidisciplinary approach may improve the prognosis and quality of life of these children. Although the exact pathogenesis of this syndrome remains relatively obscure; immunologic, microbiologic, and genetic bases have been proposed. Microbiological studies have demonstrated <italic>Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, Fusobacterium nucleatum</italic>, and <italic>Treponema denticola</italic> organisms, suggesting that many pathogens may be involved in the disease process. Previous case reports and studies have reported that <italic>A. actinomycetemcomitans</italic> play a significant role in the pathogenesis and progression of the rapid periodontal breakdown seen in PLS.[<xref ref-type="bibr" rid="ref5">5</xref><xref ref-type="bibr" rid="ref12">12</xref><xref ref-type="bibr" rid="ref26">26</xref><xref ref-type="bibr" rid="ref27">27</xref>] A decreased chemotactic and phagocytic function of neutrophils has also been suggested.[<xref ref-type="bibr" rid="ref28">28</xref>] Recent research has shown that inactivation of the cathepsin C gene is responsible for the abnormalities in skin development and periodontal disease progression.[<xref ref-type="bibr" rid="ref29">29</xref>] These various factors contributing to the etiopathogenesis of this disease ensure that successful treatment of the rapid periodontal destruction seen in this syndrome remains a challenging problem. In our cases, genetic testing could not be performed to identify the gene mutation because of the low economic status of the parents, but the dermatological, periodontal, and radiological features strongly suggested the diagnosis of PLS. Moreover, consanguineous descent has been described for this syndrome,[<xref ref-type="bibr" rid="ref29">29</xref>] and the two cases reported here were also associated with consanguinity of parents. Phenotypically, the parents were healthy and there was no family history of the disease, suggesting an autosomal recessive pattern of inheritance.</p><p>The differential diagnoses include Haim-Munk syndrome and hypophosphatasia. Haim-Munk syndrome has been described as an autosomal-recessive genodermatosis characterized by congenital palmoplantar keratoderma and progressive early-onset periodontitis. Haim-Munk syndrome also exhibits arachnodactly, acroosteolysis, atrophy of nails, and deformity of the phalanges in the hands. None of these features were found in the present cases. In hypophosphatasia, deficiency of alkaline phosphatase activity is seen,[<xref ref-type="bibr" rid="ref30">30</xref>] but in our cases, the values were within normal limits and therefore this differential diagnosis could be excluded.</p><p>A definite treatment regime has not been yet reported; however, to control periodontal destruction, several treatment modalities have been suggested, e.g., conventional periodontal therapy, oral hygiene instructions, and systemic antibiotics.[<xref ref-type="bibr" rid="ref27">27</xref>] Further research is required for defining a treatment strategy that can save the smiles of these children. Identification of specific periodontal pathogens and antibiotic therapy appropriate to these microorganisms, along with extraction of severely periodontally compromised teeth can prolong the viability of non-affected teeth. Newer therapeutic modalities involve the use of oral retinoids, such as acitretin, etretinate, and isotretinoin.[<xref ref-type="bibr" rid="ref12">12</xref><xref ref-type="bibr" rid="ref31">31</xref>] It is reported that etretinate and acitretin modulate the course of periodontitis and preserve the teeth.[<xref ref-type="bibr" rid="ref31">31</xref>] A course of antibiotics should be tried to control the active periodontitis in an effort to preserve the teeth and to prevent bacteremia and subsequently pyogenic liver abscess.[<xref ref-type="bibr" rid="ref32">32</xref>] The risk of pyogenic liver abscess should be kept in mind in evaluating these patients when they present with fever of unknown origin.[<xref ref-type="bibr" rid="ref32">32</xref>] In the future, stem cell therapy can be expected to open up new vistas in the dental treatment of such children.</p></sec><sec sec-type="conclusion" id="sec1-4"><title>CONCLUSION</title><p>PLS threatens children and their parents with the prospect of edentulism if left untreated. Hence, early diagnosis and intervention is essential. For edentulous patients, oral rehabilitation is required; which includes partial or complete denture prosthetic replacement (according to the age of the patient). Osseointegrated implants are an option for the future and can have a great impact psychosocially by restoring esthetics as well as function.</p><p>The periodontist is the first member of the health team to see and treat the patients afflicted with such unusual syndromes such as PLS, and therefore, greater awareness of this syndrome will be helpful in identifying more cases for further study.</p></sec></body><back><fn-group><fn fn-type="supported-by"><p><bold>Source of Support:</bold> Nil</p></fn><fn fn-type="conflict"><p><bold>Conflict of Interest:</bold> None declared</p></fn></fn-group><ref-list><title>REFERENCES</title><ref id="ref1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Papillon</surname><given-names>MM</given-names></name><name><surname>Lefèvre</surname><given-names>P</given-names></name></person-group><article-title>Deux cas de keratodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frere et la soeur. Coexistence dans les deus cas alterations dentaires grabes</article-title><source>Bulletin de la Soceite Francaise de Dermatologie et de Syphiligraphie</source><year>1924</year><volume>31</volume><fpage>82</fpage><lpage>7</lpage></element-citation></ref><ref id="ref2"><label>2</label><element-citation publication-type="book"><person-group person-group-type="author"><name><surname>Gorlin</surname><given-names>RJ</given-names></name><name><surname>Cohen</surname><given-names>MM</given-names></name><name><surname>Levin</surname><given-names>LS</given-names></name></person-group><source>Syndromes of the Head and Neck</source><year>1990</year><edition>3rd ed</edition><publisher-loc>Oxford</publisher-loc><publisher-name>Oxford University Pres</publisher-name><fpage>853</fpage><lpage>5</lpage></element-citation></ref><ref id="ref3"><label>3</label><element-citation publication-type="book"><person-group person-group-type="editor"><name><surname>Hall</surname><given-names>RK</given-names></name></person-group><source>Paediatric Orofacial Medicine and Pathology</source><year>1994</year><edition>1st ed</edition><publisher-loc>London</publisher-loc><publisher-name>Chapman and HallMedical</publisher-name></element-citation></ref><ref id="ref4"><label>4</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kressin</surname><given-names>S</given-names></name><name><surname>Herforth</surname><given-names>A</given-names></name><name><surname>Preis</surname><given-names>S</given-names></name><name><surname>Wahn</surname><given-names>V</given-names></name><name><surname>Lenard</surname><given-names>HG</given-names></name></person-group><article-title>Papillon–Lefèvre syndrome – successful treatment with a combination of retinoid and concurrent systematic periodontal therapy: Case reports</article-title><source>Quintessence Int</source><year>1995</year><volume>26</volume><fpage>795</fpage><lpage>803</lpage><pub-id pub-id-type="pmid">8628839</pub-id></element-citation></ref><ref id="ref5"><label>5</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Wara-Aswapati</surname><given-names>N</given-names></name><name><surname>Lertsirivorakul</surname><given-names>J</given-names></name><name><surname>Nagasawa</surname><given-names>T</given-names></name><name><surname>Kawashima</surname><given-names>Y</given-names></name><name><surname>Ishikawa</surname><given-names>I</given-names></name></person-group><article-title>Papillon–Lefèvre syndrome: Serum immunoglobulins G (IgG) subclass antibody response to periodontopathic bacteria. A case report</article-title><source>J Periodontol</source><year>2001</year><volume>72</volume><fpage>1747</fpage><lpage>54</lpage><pub-id pub-id-type="pmid">11811512</pub-id></element-citation></ref><ref id="ref6"><label>6</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Lundgren</surname><given-names>T</given-names></name><name><surname>Crossner</surname><given-names>CG</given-names></name><name><surname>Twetman</surname><given-names>S</given-names></name><name><surname>Ullbro</surname><given-names>C</given-names></name></person-group><article-title>Systemic retinoid medication and periodontal health in patients with Papillon–Lefèvre syndrome</article-title><source>J Clin Periodontol</source><year>1996</year><volume>23</volume><fpage>176</fpage><lpage>9</lpage><pub-id pub-id-type="pmid">8707975</pub-id></element-citation></ref><ref id="ref7"><label>7</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hart</surname><given-names>TC</given-names></name><name><surname>Hart</surname><given-names>PS</given-names></name><name><surname>Bowden</surname><given-names>DW</given-names></name><name><surname>Michalec</surname><given-names>MD</given-names></name><name><surname>Callison</surname><given-names>SA</given-names></name><name><surname>Walker</surname><given-names>SJ</given-names></name><etal></etal></person-group><article-title>Mutation of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome</article-title><source>J Med Genet</source><year>1999</year><volume>36</volume><fpage>881</fpage><lpage>7</lpage><pub-id pub-id-type="pmid">10593994</pub-id></element-citation></ref><ref id="ref8"><label>8</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Toomes</surname><given-names>C</given-names></name><name><surname>James</surname><given-names>J</given-names></name><name><surname>Wood</surname><given-names>AJ</given-names></name><name><surname>Wu</surname><given-names>CL</given-names></name><name><surname>McCormick</surname><given-names>D</given-names></name><name><surname>Lench</surname><given-names>N</given-names></name><etal></etal></person-group><article-title>Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis</article-title><source>Nat Genet</source><year>1999</year><volume>23</volume><fpage>421</fpage><lpage>4</lpage><pub-id pub-id-type="pmid">10581027</pub-id></element-citation></ref><ref id="ref9"><label>9</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hart</surname><given-names>PS</given-names></name><name><surname>Zhang</surname><given-names>Y</given-names></name><name><surname>Firatli</surname><given-names>E</given-names></name><name><surname>Uygur</surname><given-names>C</given-names></name><name><surname>Lotfazar</surname><given-names>M</given-names></name><name><surname>Michalec</surname><given-names>MD</given-names></name><etal></etal></person-group><article-title>Identification of cathepsin C mutationsin ethnically diverse Papillon- Lefèvre syndrome patients</article-title><source>J Med Genet</source><year>2000</year><volume>37</volume><fpage>927</fpage><lpage>32</lpage><pub-id pub-id-type="pmid">11106356</pub-id></element-citation></ref><ref id="ref10"><label>10</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>D’Angelo</surname><given-names>A</given-names></name><name><surname>Margiotta</surname><given-names>V</given-names></name><name><surname>Ammatuma</surname><given-names>P</given-names></name><name><surname>Sammartano</surname><given-names>F</given-names></name></person-group><article-title>Treatment of prepubertal periodontitis. A case report and discussion</article-title><source>J Clin Periodontol</source><year>1992</year><volume>19</volume><fpage>214</fpage><lpage>9</lpage><pub-id pub-id-type="pmid">1556251</pub-id></element-citation></ref><ref id="ref11"><label>11</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Brown</surname><given-names>RS</given-names></name><name><surname>Hays</surname><given-names>G</given-names></name><name><surname>Flaitz</surname><given-names>CM</given-names></name><name><surname>O’Neill</surname><given-names>PA</given-names></name><name><surname>Abramovitch</surname><given-names>K</given-names></name><name><surname>White</surname><given-names>RR</given-names></name></person-group><article-title>A possible late onset variation of Papillon–Lefèvre syndrome: Report of 3 cases</article-title><source>J Periodontol</source><year>1993</year><volume>64</volume><fpage>379</fpage><lpage>86</lpage><pub-id pub-id-type="pmid">8515368</pub-id></element-citation></ref><ref id="ref12"><label>12</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Tinanoff</surname><given-names>N</given-names></name><name><surname>Tempro</surname><given-names>P</given-names></name><name><surname>Maderazo</surname><given-names>EG</given-names></name></person-group><article-title>Dental treatment of Papillon–Lefèvre syndrome: 15 year followup</article-title><source>J Clin Periodontol</source><year>1995</year><volume>22</volume><fpage>609</fpage><lpage>12</lpage><pub-id pub-id-type="pmid">8583017</pub-id></element-citation></ref><ref id="ref13"><label>13</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>FQratlQ</surname><given-names>E</given-names></name><name><surname>Gurel</surname><given-names>N</given-names></name><name><surname>Efeoglu</surname><given-names>A</given-names></name><name><surname>Badur</surname><given-names>S</given-names></name></person-group><article-title>Clinical and immunological findings in 2 siblings with Papillon–Lefèvre syndrome</article-title><source>J Periodontol</source><year>1996</year><volume>67</volume><fpage>1210</fpage><lpage>5</lpage><pub-id pub-id-type="pmid">8959572</pub-id></element-citation></ref><ref id="ref14"><label>14</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Ghaffer</surname><given-names>KA</given-names></name><name><surname>Zahran</surname><given-names>FM</given-names></name><name><surname>Fahmy</surname><given-names>HM</given-names></name><name><surname>Brown</surname><given-names>RS</given-names></name></person-group><article-title>Papillon–Lefèvre syndrome. Neutrophil function in 15 cases from 4 families in Egypt</article-title><source>Oral Surg Oral Med Oral Pathol Oral Radio Endod</source><year>1999</year><volume>88</volume><fpage>320</fpage><lpage>5</lpage></element-citation></ref><ref id="ref15"><label>15</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Liu</surname><given-names>R</given-names></name><name><surname>Cao</surname><given-names>C</given-names></name><name><surname>Meng</surname><given-names>H</given-names></name><name><surname>Tang</surname><given-names>Z</given-names></name></person-group><article-title>Leukocyte function in 2 cases of Papillon–Lefèvre syndrome</article-title><source>J Clin Periodontol</source><year>2000</year><volume>27</volume><fpage>69</fpage><lpage>73</lpage><pub-id pub-id-type="pmid">10674964</pub-id></element-citation></ref><ref id="ref16"><label>16</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Lyberg</surname><given-names>T</given-names></name></person-group><article-title>Immunological and metabolic studies in two siblings with Papillon–Lefèvre syndrome</article-title><source>J Periodontol Res</source><year>1982</year><volume>17</volume><fpage>563</fpage><lpage>8</lpage></element-citation></ref><ref id="ref17"><label>17</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Schroeder</surname><given-names>HE</given-names></name><name><surname>Seger</surname><given-names>RA</given-names></name><name><surname>Keller</surname><given-names>HU</given-names></name><name><surname>Rateitschak- Plüss</surname><given-names>EM</given-names></name></person-group><article-title>Behavior of neutrophilic granulocytes in a case of Papillon–Lefèvre syndrome</article-title><source>J Clin Periodontol</source><year>1983</year><volume>10</volume><fpage>618</fpage><lpage>35</lpage><pub-id pub-id-type="pmid">6228567</pub-id></element-citation></ref><ref id="ref18"><label>18</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hathway</surname><given-names>R</given-names></name></person-group><article-title>Papillon–Lefèvre syndrome</article-title><source>Br Dent J</source><year>1982</year><volume>153</volume><fpage>370</fpage><lpage>1</lpage><pub-id pub-id-type="pmid">6216904</pub-id></element-citation></ref><ref id="ref19"><label>19</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bimstein</surname><given-names>E</given-names></name><name><surname>Lustmann</surname><given-names>J</given-names></name><name><surname>Sela</surname><given-names>MN</given-names></name><name><surname>Neriah</surname><given-names>ZB</given-names></name><name><surname>Soskolne</surname><given-names>WA</given-names></name></person-group><article-title>Periodontitis associated with Papillon– Lefèvre syndrome</article-title><source>J Periodontol</source><year>1990</year><volume>61</volume><fpage>373</fpage><lpage>7</lpage><pub-id pub-id-type="pmid">2164081</pub-id></element-citation></ref><ref id="ref20"><label>20</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hattab</surname><given-names>FN</given-names></name><name><surname>Rawashdeh</surname><given-names>MR</given-names></name><name><surname>Yassin</surname><given-names>OM</given-names></name><name><surname>Al-Momani</surname><given-names>AS</given-names></name><name><surname>Al-Ubosi</surname><given-names>MM</given-names></name></person-group><article-title>Papillon–Lefèvre syndrome: a review of the literature and a report of 4 cases</article-title><source>J Periodontol</source><year>1995</year><volume>66</volume><fpage>413</fpage><lpage>20</lpage><pub-id pub-id-type="pmid">7623262</pub-id></element-citation></ref><ref id="ref21"><label>21</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Rateitschak-Plüss</surname><given-names>EM</given-names></name><name><surname>Schroeder</surname><given-names>HE</given-names></name></person-group><article-title>History of periodontitis in a child with Papillon–Lefèvre syndrome</article-title><source>J Periodontol</source><year>1984</year><volume>55</volume><fpage>35</fpage><lpage>46</lpage><pub-id pub-id-type="pmid">6229622</pub-id></element-citation></ref><ref id="ref22"><label>22</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Glenwright</surname><given-names>HD</given-names></name><name><surname>Rock</surname><given-names>WP</given-names></name></person-group><article-title>Papillon–Lefèvre syndrome. A discussion of aetiology and a case report</article-title><source>Br Dent J</source><year>1990</year><volume>168</volume><fpage>27</fpage><lpage>9</lpage><pub-id pub-id-type="pmid">2137346</pub-id></element-citation></ref><ref id="ref23"><label>23</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bullon</surname><given-names>P</given-names></name><name><surname>Pascual</surname><given-names>A</given-names></name><name><surname>Fernandez-Novoa</surname><given-names>MC</given-names></name><name><surname>Borobio</surname><given-names>MV</given-names></name><name><surname>Muniain</surname><given-names>MA</given-names></name><name><surname>Camacho</surname><given-names>F</given-names></name></person-group><article-title>Late onset Papillon– Lefèvre syndrome. A chromosomic, neutrophil function and microbiological study?</article-title><source>J Clin Periodontol</source><year>1993</year><volume>20</volume><fpage>662</fpage><lpage>7</lpage><pub-id pub-id-type="pmid">8227454</pub-id></element-citation></ref><ref id="ref24"><label>24</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>De Vree</surname><given-names>H</given-names></name><name><surname>Steenackers</surname><given-names>K</given-names></name><name><surname>de Boever</surname><given-names>JA</given-names></name></person-group><article-title>Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon–Lefèvre syndrome: 15- years follow-up</article-title><source>J Clin Periodontol</source><year>2000</year><volume>27</volume><fpage>354</fpage><lpage>60</lpage><pub-id pub-id-type="pmid">10847540</pub-id></element-citation></ref><ref id="ref25"><label>25</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Van Dyke</surname><given-names>TE</given-names></name><name><surname>Taubman</surname><given-names>MA</given-names></name><name><surname>Ebersole</surname><given-names>JL</given-names></name><name><surname>Haffajee</surname><given-names>AD</given-names></name><name><surname>Socransky</surname><given-names>SS</given-names></name><name><surname>Smith</surname><given-names>DJ</given-names></name><etal></etal></person-group><article-title>The Papillon–Lefèvre syndrome: Neutrophil dysfunction with severe periodontal disease</article-title><source>Clin Immunol Immunopathol</source><year>1984</year><volume>31</volume><fpage>419</fpage><lpage>29</lpage><pub-id pub-id-type="pmid">6232030</pub-id></element-citation></ref><ref id="ref26"><label>26</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Sagllie</surname><given-names>FR</given-names></name><name><surname>Marfany</surname><given-names>A</given-names></name><name><surname>Camargo</surname><given-names>P</given-names></name></person-group><article-title>Intragingival occurrence of Actinobacilllus actinomycetemcomitans and Bacterioides gingivalis in active destructive periodontal lesions</article-title><source>J Periodontol</source><year>1988</year><volume>59</volume><fpage>259</fpage><lpage>65</lpage><pub-id pub-id-type="pmid">3290428</pub-id></element-citation></ref><ref id="ref27"><label>27</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Stabholz</surname><given-names>A</given-names></name><name><surname>Taichman</surname><given-names>S</given-names></name><name><surname>Soskolne</surname><given-names>WA</given-names></name></person-group><article-title>Occurrence of actinobacillus actinomycetemcomitans and anti-leukotoxin antibodies in some members of an extended family affected by Papilon-Lefèvre syndrome</article-title><source>J Periodontol</source><year>1995</year><volume>66</volume><fpage>653</fpage><lpage>7</lpage><pub-id pub-id-type="pmid">7562358</pub-id></element-citation></ref><ref id="ref28"><label>28</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Firatli</surname><given-names>E</given-names></name><name><surname>Gurel</surname><given-names>N</given-names></name><name><surname>Efeoglu</surname><given-names>A</given-names></name><name><surname>Badur</surname><given-names>S</given-names></name></person-group><article-title>Clinical and immunological findings in 2 siblings with Papillon-Lefèvre syndrome</article-title><source>J Periodontol</source><year>1996</year><volume>67</volume><fpage>1210</fpage><lpage>5</lpage><pub-id pub-id-type="pmid">8959572</pub-id></element-citation></ref><ref id="ref29"><label>29</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hart</surname><given-names>TC</given-names></name><name><surname>Hart</surname><given-names>PS</given-names></name><name><surname>Bowden</surname><given-names>DW</given-names></name><name><surname>Michalec</surname><given-names>MD</given-names></name><name><surname>Callison</surname><given-names>SA</given-names></name><name><surname>Walker</surname><given-names>SJ</given-names></name><etal></etal></person-group><article-title>Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome</article-title><source>J Dent Res</source><year>2004</year><volume>83</volume><fpage>368</fpage><lpage>70</lpage><pub-id pub-id-type="pmid">15111626</pub-id></element-citation></ref><ref id="ref30"><label>30</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Preus</surname><given-names>H</given-names></name><name><surname>Gjermo</surname><given-names>P</given-names></name></person-group><article-title>Clinical management of prepubertal periodontitis in 2 siblings with Papillon - Lefèvre syndrome</article-title><source>J Clin Periodontol</source><year>1987</year><volume>14</volume><fpage>156</fpage><lpage>60</lpage><pub-id pub-id-type="pmid">2951399</pub-id></element-citation></ref><ref id="ref31"><label>31</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Gelmetti</surname><given-names>C</given-names></name><name><surname>Nazzaro</surname><given-names>V</given-names></name><name><surname>Cerri</surname><given-names>D</given-names></name><name><surname>Fracasso</surname><given-names>L</given-names></name></person-group><article-title>Long term preservation of permanent teeth in a patient with Papillon-Lefèvre syndrome treated with etretinate</article-title><source>Pediatr Dermatol</source><year>1989</year><volume>6</volume><fpage>222</fpage><lpage>5</lpage><pub-id pub-id-type="pmid">2529483</pub-id></element-citation></ref><ref id="ref32"><label>32</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Almuneef</surname><given-names>M</given-names></name><name><surname>Al Khenaizan</surname><given-names>S</given-names></name><name><surname>Al Ajaji</surname><given-names>S</given-names></name><name><surname>Al-Anazi</surname><given-names>A</given-names></name></person-group><article-title>Pyogenic liver abscess and Papillon-Lefèvre syndrome: Not a rare association</article-title><source>Pediatrics</source><year>2003</year><volume>111</volume><fpage>85</fpage><lpage>8</lpage></element-citation></ref></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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