Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases
Identifieur interne : 002472 ( Main/Exploration ); précédent : 002471; suivant : 002473Genetic 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
Affiliations:
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L." last="Bhongade">M. L. Bhongade</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001</wicri:regionArea><wicri:noRegion>Maharashtra 442001</wicri:noRegion></affiliation></author><author><name sortKey="Charde, Pretti" sort="Charde, Pretti" uniqKey="Charde P" first="Pretti" last="Charde">Pretti Charde</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001</wicri:regionArea><wicri:noRegion>Maharashtra 442001</wicri:noRegion></affiliation></author><author><name sortKey="Kale, Shweta" sort="Kale, Shweta" uniqKey="Kale S" first="Shweta" last="Kale">Shweta Kale</name><affiliation wicri:level="1"><nlm:aff id="I2">Department of Prosthodontics, Sharad Pawar Dental College and Hospital, Wardha, Maharastra 442001, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Prosthodontics, Sharad Pawar Dental College and Hospital, Wardha, Maharastra 442001</wicri:regionArea><wicri:noRegion>Maharastra 442001</wicri:noRegion></affiliation></author><author><name sortKey="Jaiswal, Priyanka" sort="Jaiswal, Priyanka" uniqKey="Jaiswal P" first="Priyanka" last="Jaiswal">Priyanka Jaiswal</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001</wicri:regionArea><wicri:noRegion>Maharashtra 442001</wicri:noRegion></affiliation></author><author><name sortKey="Somnath, B K" sort="Somnath, B K" uniqKey="Somnath B" first="B. 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Somnath</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001</wicri:regionArea><wicri:noRegion>Maharashtra 442001</wicri:noRegion></affiliation></author><author><name sortKey="Pendor, Sunil" sort="Pendor, Sunil" uniqKey="Pendor S" first="Sunil" last="Pendor">Sunil Pendor</name><affiliation wicri:level="1"><nlm:aff id="I1">Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001</wicri:regionArea><wicri:noRegion>Maharashtra 442001</wicri:noRegion></affiliation></author></analytic><series><title level="j">Case Reports in Dentistry</title><idno type="ISSN">2090-6447</idno><idno type="eISSN">2090-6455</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></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="Valeshabad, Ak" uniqKey="Valeshabad A">AK Valeshabad</name></author><author><name sortKey="Mazidi, A" uniqKey="Mazidi A">A Mazidi</name></author><author><name sortKey="Valeshabad, Rk" uniqKey="Valeshabad R">RK Valeshabad</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hart, Tc" uniqKey="Hart T">TC Hart</name></author><author><name sortKey="Shapira, Ls" uniqKey="Shapira L">LS Shapira</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kressin, S" uniqKey="Kressin S">S 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Hattab</name></author><author><name sortKey="Amin, Wm" uniqKey="Amin W">WM Amin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Janjua, Sa" uniqKey="Janjua S">SA Janjua</name></author><author><name sortKey="Khachemoune, A" uniqKey="Khachemoune A">A Khachemoune</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stabholz, A" uniqKey="Stabholz A">A Stabholz</name></author><author><name sortKey="Taichman, Ns" uniqKey="Taichman N">NS Taichman</name></author><author><name sortKey="Soskolne, Wa" uniqKey="Soskolne W">WA Soskolne</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hall, Rk" uniqKey="Hall R">RK Hall</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Inde</li></country></list><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></noRegion><name sortKey="Bhongade, M L" sort="Bhongade, M L" uniqKey="Bhongade M" first="M. 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