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Diagnosis and Management of Papillon-Lefevre Syndrome: A Rare Case Report and a Brief Review of Literature.

作者信息

Phull Tanvi, Jyoti Divya, Malhotra Ritu, Nayak Shanteri, Modi Himanshi, Singla Ishu, P Aishwarrya

机构信息

Department of Oral and Maxillofacial Surgery, Gian Sagar Dental College, Rajpura, Patiala, IND.

Department of Oral Health Sciences, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, Chandigarh, IND.

出版信息

Cureus. 2023 Aug 11;15(8):e43335. doi: 10.7759/cureus.43335. eCollection 2023 Aug.

DOI:10.7759/cureus.43335
PMID:37701012
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10493119/
Abstract

Papillon-Lefevre syndrome (PLS) manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene. This genetic alteration results in palmoplantar hyperkeratosis, rapid onset of periodontitis, and premature shedding of both primary and permanent teeth. The major etiological factor responsible for the development of this disorder appears to be variations in the CTSC gene, which is responsible for the production of the cathepsin C enzyme in the body. The multifactorial aetiology of the syndrome is influenced by immunologic, genetic, or microbial factors. This case report presents a clinical picture of a 21-year-old Indian male patient with oligodontia and mobile teeth accompanied by palmoplantar keratosis and a history of recurrent infection. The detailed family history of the patient revealed genetic relevance with PLS. This article will discuss in detail the diagnosis, evaluation and treatment modalities involved in the management of the case.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/de3ecdbcf5e9/cureus-0015-00000043335-i08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/295f7233e4c4/cureus-0015-00000043335-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/71e034c5b338/cureus-0015-00000043335-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/b51893b7c122/cureus-0015-00000043335-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/7fb2cafeb0e3/cureus-0015-00000043335-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/214bae0e0f8b/cureus-0015-00000043335-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/42c16acd8b07/cureus-0015-00000043335-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/c27d8ad326cb/cureus-0015-00000043335-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/de3ecdbcf5e9/cureus-0015-00000043335-i08.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/295f7233e4c4/cureus-0015-00000043335-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/71e034c5b338/cureus-0015-00000043335-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/b51893b7c122/cureus-0015-00000043335-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/7fb2cafeb0e3/cureus-0015-00000043335-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/214bae0e0f8b/cureus-0015-00000043335-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/42c16acd8b07/cureus-0015-00000043335-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/c27d8ad326cb/cureus-0015-00000043335-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48a0/10493119/de3ecdbcf5e9/cureus-0015-00000043335-i08.jpg

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本文引用的文献

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Case Rep Dent. 2019 Apr 21;2019:4210347. doi: 10.1155/2019/4210347. eCollection 2019.
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Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature.帕皮永-勒费弗尔综合征：两兄弟的罕见病例报告及文献综述
Int J Clin Pediatr Dent. 2018 Jul-Aug;11(4):352-355. doi: 10.5005/jp-journals-10005-1538. Epub 2018 Aug 1.
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Papillon-Lefèvre syndrome: clinical presentation and management options.
掌跖角化牙周破坏综合征：临床表现及治疗选择
Clin Cosmet Investig Dent. 2015 Jul 15;7:75-81. doi: 10.2147/CCIDE.S76080. eCollection 2015.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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Prosthodontic rehabilitation in Papillon-Lefevre syndrome: a case report.帕皮永-勒费弗尔综合征的口腔修复治疗：一例报告
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THE SYNDROME OF PALMAR-PLANTAR HYPERKERATOSIS AND PREMATURE PERIODONTAL DESTRUCTION OF THE TEETH. A CLINICAL AND GENETIC ANALYSIS OF THE PAPILLON-LEF'EVRE SYNDROME.掌跖角化过度与牙齿过早牙周破坏综合征。帕皮永-勒费弗尔综合征的临床与遗传学分析。
J Pediatr. 1964 Dec;65:895-908. doi: 10.1016/s0022-3476(64)80014-7.
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Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association.化脓性肝脓肿与帕皮永-勒费弗尔综合征：并非罕见的关联。
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