Papillon–Lefevre syndrome: Reporting consanguinity as a risk factor
Identifieur interne : 005317 ( Ncbi/Merge ); précédent : 005316; suivant : 005318Papillon–Lefevre syndrome: Reporting consanguinity as a risk factor
Auteurs : Aasim Farooq Shah [Inde] ; Pradeep Tangade [Inde] ; Swatantra Agarwal [Inde]Source :
- The Saudi Dental Journal [ 1013-9052 ] ; 2014.
Abstract
Papillon–Lefevre syndrome (PLS) is an autosomal recessive genetic disorder characterized by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes two cases of PLS in 28-year-old female and 16-year-old male siblings with consanguineously married parents. The patients presented to the Department of Public Health Dentistry of a dental education and research institute in India with thickening, flaking, and scaling of the skin on the palms and soles of the feet. On oral examination, the female patient presented completely resorbed maxillary and mandibular alveolar ridges with retention of only the third molars. The male patient retained only teeth 18, 13, 28, 38, and 45. Based on complete histories and clinical examination findings, a final diagnosis of PLS was made and treatment was initiated using an interdisciplinary dental approach in both cases.
Url:
DOI: 10.1016/j.sdentj.2014.02.004
PubMed: 25057233
PubMed Central: 4095039
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<series><title level="j">The Saudi Dental Journal</title>
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<front><div type="abstract" xml:lang="en"><p>Papillon–Lefevre syndrome (PLS) is an autosomal recessive genetic disorder characterized by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes two cases of PLS in 28-year-old female and 16-year-old male siblings with consanguineously married parents. The patients presented to the Department of Public Health Dentistry of a dental education and research institute in India with thickening, flaking, and scaling of the skin on the palms and soles of the feet. On oral examination, the female patient presented completely resorbed maxillary and mandibular alveolar ridges with retention of only the third molars. The male patient retained only teeth 18, 13, 28, 38, and 45. Based on complete histories and clinical examination findings, a final diagnosis of PLS was made and treatment was initiated using an interdisciplinary dental approach in both cases.</p>
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<pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Saudi Dent J</journal-id>
<journal-id journal-id-type="iso-abbrev">Saudi Dent J</journal-id>
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<article-id pub-id-type="doi">10.1016/j.sdentj.2014.02.004</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
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<title-group><article-title>Papillon–Lefevre syndrome: Reporting consanguinity as a risk factor</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Shah</surname>
<given-names>Aasim Farooq</given-names>
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<email>dr_aasimshah@yahoo.com</email>
<xref rid="af005" ref-type="aff">a</xref>
<xref rid="cor1" ref-type="corresp">⁎</xref>
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<contrib contrib-type="author"><name><surname>Tangade</surname>
<given-names>Pradeep</given-names>
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<email>ptangade@rediffmail.com</email>
<xref rid="af005" ref-type="aff">a</xref>
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<contrib contrib-type="author"><name><surname>Agarwal</surname>
<given-names>Swatantra</given-names>
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<email>drswatantra@yahoo.co.in</email>
<xref rid="af010" ref-type="aff">b</xref>
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<aff id="af005"><label>a</label>
Department of Public Health Dentistry, Kothiwal Dental College & Research Centre, Kanth Road, Moradabad 244001, Uttar Pradesh, India</aff>
<aff id="af010"><label>b</label>
Department of Prosthodontics, Kothiwal Dental College & Research Centre, Kanth Road, Moradabad 244001, Uttar Pradesh, India</aff>
<author-notes><corresp id="cor1"><label>⁎</label>
Corresponding author. Mobile: +91 9456910498. <email>dr_aasimshah@yahoo.com</email>
</corresp>
<fn id="fn1"><label>1</label>
<p>Mobile: +91 9997466339; fax: +91 0591 2452996.</p>
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<fn id="fn2"><label>2</label>
<p>Mobile: +91 9837043736.</p>
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<pub-date pub-type="pmc-release"><day>19</day>
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<pub-date pub-type="epub"><day>19</day>
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<year>2014</year>
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<pub-date pub-type="ppub"><month>7</month>
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<volume>26</volume>
<issue>3</issue>
<fpage>126</fpage>
<lpage>131</lpage>
<history><date date-type="received"><day>17</day>
<month>10</month>
<year>2013</year>
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<date date-type="rev-recd"><day>31</day>
<month>12</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>11</day>
<month>2</month>
<year>2014</year>
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<permissions><copyright-statement>© 2014 King Saud University. Production and Hosting by Elsevier B.V. All rights reserved.</copyright-statement>
<copyright-year>2014</copyright-year>
<copyright-holder>King Saud University</copyright-holder>
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<abstract><p>Papillon–Lefevre syndrome (PLS) is an autosomal recessive genetic disorder characterized by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes two cases of PLS in 28-year-old female and 16-year-old male siblings with consanguineously married parents. The patients presented to the Department of Public Health Dentistry of a dental education and research institute in India with thickening, flaking, and scaling of the skin on the palms and soles of the feet. On oral examination, the female patient presented completely resorbed maxillary and mandibular alveolar ridges with retention of only the third molars. The male patient retained only teeth 18, 13, 28, 38, and 45. Based on complete histories and clinical examination findings, a final diagnosis of PLS was made and treatment was initiated using an interdisciplinary dental approach in both cases.</p>
</abstract>
<kwd-group><title>Keywords</title>
<kwd>Papillon–Lefevre syndrome</kwd>
<kwd>Consanguinity</kwd>
<kwd>Periodontitis</kwd>
<kwd>Premature tooth loss</kwd>
</kwd-group>
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