Papillon-lefevre syndrome: Case series and review of literature
Identifieur interne : 001022 ( Main/Exploration ); précédent : 001021; suivant : 001023Papillon-lefevre syndrome: Case series and review of literature
Auteurs : Margi V. Bhavsar ; Nilam A. Brahmbhatt ; Vishal N. Sahayata ; Neeta V. BhavsarSource :
- Journal of Indian Society of Periodontology [ 0972-124X ] ; 2013.
Abstract
Papillon-lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.
Url:
DOI: 10.4103/0972-124X.124530
PubMed: 24554896
PubMed Central: 3917216
Affiliations:
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Bhavsar</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Brahmbhatt, Nilam A" sort="Brahmbhatt, Nilam A" uniqKey="Brahmbhatt N" first="Nilam A." last="Brahmbhatt">Nilam A. Brahmbhatt</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Sahayata, Vishal N" sort="Sahayata, Vishal N" uniqKey="Sahayata V" first="Vishal N." last="Sahayata">Vishal N. Sahayata</name><affiliation><nlm:aff id="aff2"><italic>Department of Periodontology, Faculty of Dental Science, Dharmsinh Desai University, Nadiad, Gujarat, India</italic></nlm:aff></affiliation></author><author><name sortKey="Bhavsar, Neeta V" sort="Bhavsar, Neeta V" uniqKey="Bhavsar N" first="Neeta V." last="Bhavsar">Neeta V. Bhavsar</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="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) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.</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="Ullbro, C" uniqKey="Ullbro C">C Ullbro</name></author><author><name sortKey="Crossner, Cg" uniqKey="Crossner C">CG Crossner</name></author><author><name sortKey="Nederfors, T" uniqKey="Nederfors T">T Nederfors</name></author><author><name sortKey="Alfadley, A" uniqKey="Alfadley A">A Alfadley</name></author><author><name sortKey="Thestrup Pedersen, K" uniqKey="Thestrup Pedersen K">K Thestrup-Pedersen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wani, Aa" uniqKey="Wani A">AA Wani</name></author><author><name sortKey="Devkar, N" uniqKey="Devkar N">N 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V" uniqKey="Bhavsar M" first="Margi V." last="Bhavsar">Margi V. Bhavsar</name><name sortKey="Bhavsar, Neeta V" sort="Bhavsar, Neeta V" uniqKey="Bhavsar N" first="Neeta V." last="Bhavsar">Neeta V. Bhavsar</name><name sortKey="Brahmbhatt, Nilam A" sort="Brahmbhatt, Nilam A" uniqKey="Brahmbhatt N" first="Nilam A." last="Brahmbhatt">Nilam A. Brahmbhatt</name><name sortKey="Sahayata, Vishal N" sort="Sahayata, Vishal N" uniqKey="Sahayata V" first="Vishal N." last="Sahayata">Vishal N. Sahayata</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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