Papillon-Lefèvre Syndrome: A Series of Six Cases in the Same Family
Identifieur interne : 003095 ( Main/Exploration ); précédent : 003094; suivant : 003096Papillon-Lefèvre Syndrome: A Series of Six Cases in the Same Family
Auteurs : Ali Kord Valeshabad [États-Unis] ; Abdolmotaleb Mazidi [Iran] ; Reza Kord Valeshabad [Iran] ; Elham Imani [Iran] ; Hadi Kord [Iran] ; Mohammad Koohkan [Iran] ; Zrynal Sayinar [États-Unis] ; Khalil Al-Talib [États-Unis]Source :
- ISRN Dermatology [ 2090-4592 ] ; 2012.
Abstract
Papillon-Lefèvre syndrome (PLS) is a rare, autosomal recessive heterogeneous disorder, which is characterized by palmoplantar hyperkeratosis, early loss of primary and permanent teeth, and associated calcification of the dura mater. Herein we described six cases of PLS in the same family. In this series, six cases (two females and four males) with the mean age of 15.6 ± 10.4 years were recruited. Palmoplantar hyperkeratosis was detected in all of the cases, leading to a difficult and painful walking in two cases due to lesions on the soles. Skin lesions were sharply distinct from adjacent normal skin in all cases. Other skin lesions were located in the external malleolus (5/6), knee (4/6), elbow (4/6), toe and dorsal fingers (3/6), and the thighs (2/6). In three cases, all permanent teeth were exfoliated. In three others, no primary teeth remained. Severe gingivitis was observed in three patients. Radiologic study confirmed alveolar bone destruction in five cases. Delayed diagnosis and insufficient treatment of PLS patients can affect patient's life of by causing edentulism at a young age and may impose PLS patients to increased risk of social, psychological, and economical burdens.
Url:
DOI: 10.5402/2012/139104
PubMed: 23251811
PubMed Central: 3518962
Affiliations:
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Box 15739-49138, Gorgan, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Zainaldin Martyr Research Center, Gorgan University of Agricultural Sciences and Natural Resources, P.O. 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Box 14155-6447, Tehran, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Dermatology, Tehran University of Medical Sciences, P.O. Box 14155-6447, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Sayinar, Zrynal" sort="Sayinar, Zrynal" uniqKey="Sayinar Z" first="Zrynal" last="Sayinar">Zrynal Sayinar</name><affiliation wicri:level="2"><nlm:aff id="I1">Division of Gastroenterology and Hepatology, School of Medicine, The Johns Hopkins University, 1800 Orleans Street, Sheikh Zayed Building, Room 7125 B, Baltimore, MD 21287, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Gastroenterology and Hepatology, School of Medicine, The Johns Hopkins University, 1800 Orleans Street, Sheikh Zayed Building, Room 7125 B, Baltimore, MD 21287</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Al Talib, Khalil" sort="Al Talib, Khalil" uniqKey="Al Talib K" first="Khalil" last="Al-Talib">Khalil Al-Talib</name><affiliation wicri:level="2"><nlm:aff id="I1">Division of Gastroenterology and Hepatology, School of Medicine, The Johns Hopkins University, 1800 Orleans Street, Sheikh Zayed Building, Room 7125 B, Baltimore, MD 21287, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Gastroenterology and Hepatology, School of Medicine, The Johns Hopkins University, 1800 Orleans Street, Sheikh Zayed Building, Room 7125 B, Baltimore, MD 21287</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><series><title level="j">ISRN Dermatology</title><idno type="ISSN">2090-4592</idno><idno type="eISSN">2090-4606</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 (PLS) is a rare, autosomal recessive heterogeneous disorder, which is characterized by palmoplantar hyperkeratosis, early loss of primary and permanent teeth, and associated calcification of the dura mater. Herein we described six cases of PLS in the same family. In this series, six cases (two females and four males) with the mean age of 15.6 ± 10.4 years were recruited. Palmoplantar hyperkeratosis was detected in all of the cases, leading to a difficult and painful walking in two cases due to lesions on the soles. Skin lesions were sharply distinct from adjacent normal skin in all cases. Other skin lesions were located in the external malleolus (5/6), knee (4/6), elbow (4/6), toe and dorsal fingers (3/6), and the thighs (2/6). In three cases, all permanent teeth were exfoliated. In three others, no primary teeth remained. Severe gingivitis was observed in three patients. Radiologic study confirmed alveolar bone destruction in five cases. Delayed diagnosis and insufficient treatment of PLS patients can affect patient's life of by causing edentulism at a young age and may impose PLS patients to increased risk of social, psychological, and economical burdens.</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="Gorlin, Rj" uniqKey="Gorlin R">RJ Gorlin</name></author><author><name sortKey="Sedano, H" uniqKey="Sedano H">H Sedano</name></author><author><name sortKey="Anderson, Ve" uniqKey="Anderson V">VE Anderson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hart, Tc" uniqKey="Hart T">TC Hart</name></author><author><name sortKey="Shapira, L" uniqKey="Shapira L">L Shapira</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="Hattab, Fn" uniqKey="Hattab F">FN Hattab</name></author><author><name sortKey="Rawashdeh, Ma" uniqKey="Rawashdeh M">MA 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="Mahajan, Vk" uniqKey="Mahajan V">VK Mahajan</name></author><author><name sortKey="Thakur, Ns" uniqKey="Thakur N">NS Thakur</name></author><author><name sortKey="Sharma, Nl" uniqKey="Sharma N">NL Sharma</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Canger, Em" uniqKey="Canger E">EM Canger</name></author><author><name sortKey="Celenk, P" uniqKey="Celenk P">P Celenk</name></author><author><name sortKey="Devrim, I" uniqKey="Devrim I">I Devrim</name></author><author><name sortKey="Yenisey, M" uniqKey="Yenisey M">M Yenisey</name></author><author><name sortKey="Gunhan, O" uniqKey="Gunhan O">O Gunhan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rathod, Vj" uniqKey="Rathod V">VJ 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R">RK Hall</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="Patel, S" uniqKey="Patel S">S Patel</name></author><author><name sortKey="Davidson, Le" uniqKey="Davidson L">LE Davidson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nagaveni, Nb" uniqKey="Nagaveni N">NB Nagaveni</name></author><author><name sortKey="Suma, R" uniqKey="Suma R">R Suma</name></author><author><name sortKey="Shashikiran, Nd" uniqKey="Shashikiran N">ND 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sort="Imani, Elham" uniqKey="Imani E" first="Elham" last="Imani">Elham Imani</name><name sortKey="Koohkan, Mohammad" sort="Koohkan, Mohammad" uniqKey="Koohkan M" first="Mohammad" last="Koohkan">Mohammad Koohkan</name><name sortKey="Kord Valeshabad, Reza" sort="Kord Valeshabad, Reza" uniqKey="Kord Valeshabad R" first="Reza" last="Kord Valeshabad">Reza Kord Valeshabad</name><name sortKey="Kord, Hadi" sort="Kord, Hadi" uniqKey="Kord H" first="Hadi" last="Kord">Hadi Kord</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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