{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:13:00Z","timestamp":1761513180476,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:title\/>\n               <jats:p>A rare case of Papillon-Lefevre syndrome is discussed with clinicoradiological presentation. The purpose of the case report is to make the medical community aware of this rare syndrome and its association with consanguinity. Papillon-Lefevre syndrome is an extremely rare genodermatosis of autosomal-recessive inheritance which usually manifests itself between the ages of 6\u2005months to 4\u2005years characterised by diffuse palmoplanter hyperkeratosis (keratoderma), and rapidly progressive and devastating periodontitis, affecting the primary as well as permanent dentition. Papillon-Lefevre syndrome results from a combination of host and bacterial factors, including recessive gene, consanguinity, specific periodontal pathogens and lack of thorough oral hygiene. The present case report describes Papillon-Lefevre syndrome and its association with consanguinity in a 3-year-old girl.<\/jats:p>","DOI":"10.1136\/bcr-2012-006313","type":"journal-article","created":{"date-parts":[[2012,8,24]],"date-time":"2012-08-24T12:03:58Z","timestamp":1345809838000},"page":"bcr2012006313","source":"Crossref","is-referenced-by-count":1,"title":["Initial expression of the Papillon-Lef\u00e8vre syndrome in consanguine family"],"prefix":"10.1136","volume":"2012","author":[{"given":"Anand Pratap","family":"Singh","sequence":"first","affiliation":[{"name":"1Department of Oral Medicine and Radiology, Rungta College of Dental Sciences, Bhilai, Chhattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T R","family":"Chaitra","sequence":"additional","affiliation":[{"name":"2Department of Pedodontics, Kothiwal Dental College and Research Centre, Moradabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Surendra Pratap","family":"Singh","sequence":"additional","affiliation":[{"name":"3Department of Oral Surgery, Krishna Dental College, Ghaziabad, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adwait Uday","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"4Department of Oral and Maxillofacial Surgery, Sinhgad Dental College and Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,8,24]]},"reference":[{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.1","doi-asserted-by":"publisher","DOI":"10.4103\/0970-4388.41622"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2004.08.030"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.3","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.tripleo.2009.03.016","article-title":"Papillon-Lefevre syndrome: clinical presentation and a brief review","volume":"108","author":"Dhanrajani","year":"2009","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.1.e85"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.5","doi-asserted-by":"publisher","DOI":"10.1006\/anae.2001.0369"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.6","doi-asserted-by":"crossref","first-page":"89","DOI":"10.4103\/0972-1363.57892","article-title":"Papillon-Lefevre syndrome: a case report with review of literature","volume":"21","author":"Gadgil","year":"2009","journal-title":"J Indian Acad Oral Med Radiol"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.7","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2003.197"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.8","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.54.5.371"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-302X.2004.00143.x"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.10","first-page":"224","article-title":"Papillon-Lefevre syndrome: a case report","volume":"19","author":"Bas","year":"2004","journal-title":"Int Pediatr"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.11","doi-asserted-by":"publisher","DOI":"10.4103\/0970-4388.44037"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.12","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1055\/s-0039-1697849","article-title":"Periodontal manifestations in a patient with Haim-Munk syndrome","volume":"4","author":"Erciyas","year":"2010","journal-title":"Eur J Dentist"},{"key":"2025082703065615000_2012.aug22_1.bcr2012006313.13","first-page":"4","article-title":"Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lef\u00e8vre syndrome","volume":"12","author":"Selvaraju","year":"2003","journal-title":"BMC Med Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-006313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:07:03Z","timestamp":1756289223000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-006313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,24]]},"references-count":13,"alternative-id":["10.1136\/bcr-2012-006313"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-006313","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2012,8,24]]}}}