Suppr超能文献

由于近亲结婚导致的先天厚甲-髌骨综合征的多学科管理。

Multidisciplinary management of Papillon-Lefevre syndrome as a result of consanguineous marriage.

机构信息

Periodontology, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth University, Puducherry, India

Orthodontics and Dentofacial Orthopedics, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth University, Puducherry, India.

出版信息

BMJ Case Rep. 2022 Dec 26;15(12):e252992. doi: 10.1136/bcr-2022-252992.

Abstract

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive syndrome, and consanguinity has been reported in 20%-40% of cases. It is characterised by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes a case of PLS in a female patient with consanguineously married parents. The patient reported mobile upper front teeth. Clinical examination revealed presence of marked palmoplantar hyperkeratosis.Symmetric, well-demarcated, yellowish, keratotic and confluent plaques were seen on the skin of her palms and soles. Intraoral periodontal examination revealed erythematous gingiva with generalised periodontal pockets. Generalised mobility of teeth was present with clinically missing lower anterior teeth. Based on clinical and radiographic feature and the patient's medical, dental and family history, a diagnosis of PLS was made.

摘要

先天厚甲-牙周病综合征(PLS)是一种罕见的常染色体隐性遗传综合征,有报道称 20%-40%的病例存在近亲结婚。其特征为手掌和足底过度角化,伴有严重的早发性牙周炎和乳牙及恒牙过早丧失。本报告描述了一例由近亲结婚的父母所生的女性 PLS 患者。该患者自述上前牙松动。临床检查发现有明显的手掌和足底过度角化。她的手掌和足底皮肤可见对称的、界限清楚的、黄色的角化和融合斑块。口腔牙周检查发现牙龈红肿,有广泛性牙周袋。牙齿普遍松动,临床检查发现下前牙缺失。根据临床和影像学特征以及患者的医学、牙科和家族史,诊断为 PLS。

相似文献

1
Multidisciplinary management of Papillon-Lefevre syndrome as a result of consanguineous marriage.
BMJ Case Rep. 2022 Dec 26;15(12):e252992. doi: 10.1136/bcr-2022-252992.
2
Two patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition.
J Dermatol. 2021 Apr;48(4):537-541. doi: 10.1111/1346-8138.15720. Epub 2021 Feb 13.
3
Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor.
Saudi Dent J. 2014 Jul;26(3):126-31. doi: 10.1016/j.sdentj.2014.02.004. Epub 2014 Apr 19.
4
Oro-dental characteristics of three siblings with Papillon-Lefevre syndrome.
Niger J Clin Pract. 2017 Feb;20(2):256-260. doi: 10.4103/1119-3077.181365.
5
Intraoral findings of Papillon-LeFevre syndrome.
J Dent Child (Chic). 2008 Jan-Apr;75(1):99-103.
6
Initial expression of the Papillon-Lefevre syndrome in consanguine family.
BMJ Case Rep. 2012 Aug 24;2012:bcr2012006313. doi: 10.1136/bcr-2012-006313.
7
9
Papillon- Lefèvre Syndrome: Report of a case and its management.
J Clin Exp Dent. 2012 Feb 1;4(1):e77-81. doi: 10.4317/jced.50594. eCollection 2012 Feb.
10
Papillon-Lefevre syndrome: A case report.
Saudi Dent J. 2010 Apr;22(2):95-8. doi: 10.1016/j.sdentj.2010.02.009. Epub 2010 Feb 6.

本文引用的文献

1
Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report.
Case Rep Dent. 2019 Apr 21;2019:4210347. doi: 10.1155/2019/4210347. eCollection 2019.
2
Papillon-Lefèvre syndrome: a series of five cases among siblings.
J Med Case Rep. 2016 Sep 22;10(1):260. doi: 10.1186/s13256-016-1051-z.
3
Papillion-Lefèvre Syndrome: Periodontists' Perspective.
Case Rep Dent. 2015;2015:137381. doi: 10.1155/2015/137381. Epub 2015 Oct 8.
4
Papillon-Lefèvre syndrome: clinical presentation and management options.
Clin Cosmet Investig Dent. 2015 Jul 15;7:75-81. doi: 10.2147/CCIDE.S76080. eCollection 2015.
5
Papillon-Lefevre Syndrome In An Adolescent Female: A Case Study.
J Clin Diagn Res. 2015 May;9(5):ZD23-5. doi: 10.7860/JCDR/2015/12780.5921. Epub 2015 May 1.
7
Papillon-lefevre syndrome: Case series and review of literature.
J Indian Soc Periodontol. 2013 Nov;17(6):806-11. doi: 10.4103/0972-124X.124530.
8
Papillon-Lefevre syndrome: A case report.
Saudi Dent J. 2010 Apr;22(2):95-8. doi: 10.1016/j.sdentj.2010.02.009. Epub 2010 Feb 6.
9
Papillon-lefèvre syndrome: a series of six cases in the same family.
ISRN Dermatol. 2012;2012:139104. doi: 10.5402/2012/139104. Epub 2012 Dec 3.
10
Consanguineous marriages : Preconception consultation in primary health care settings.
J Community Genet. 2012 Jul;3(3):185-92. doi: 10.1007/s12687-011-0072-y. Epub 2011 Nov 22.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验