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掌跖角化-牙周破坏综合征：病例系列

Papillon-Lefevre syndrome: Case series.

作者信息

Patel Vasumati I, Thakkar Karan R, Gupta Shalini S, Pujara Meghna J

机构信息

Department of Periodontics, Faculty of Dental Science, Dharmsinh Desai University, Nadiad, Gujarat, India.

出版信息

J Oral Maxillofac Pathol. 2024 Oct-Dec;28(4):694-700. doi: 10.4103/jomfp.jomfp_25_24. Epub 2024 Dec 31.

DOI:10.4103/jomfp.jomfp_25_24
PMID:39949702
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11819644/
Abstract

Papillon-Lefevre syndrome (PLS) is an exceptional autosomal recessive disorder characterized by palmoplantar keratinization and premature loss of deciduous and permanent teeth. The palmoplantar keratoderma commonly has its onset between the ages of 1 and 4 years with severe periodontitis initiating at 3 or 4 years old. Parental consanguinity has been demonstrated in 20% to 40% of the cases. Management and preservation of teeth in such patients is a challenge to periodontists. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14.1-q14.3 with the loss of function of the Cathepsin-C (CTSC) gene is responsible for PLS. An early diagnosis of the syndrome can help preserve the teeth through early institution of treatment, using a multidisciplinary approach. We hereby present four cases having all the characteristic features of the syndrome.

摘要

掌跖角化-牙周破坏综合征（PLS）是一种罕见的常染色体隐性疾病，其特征为掌跖角化以及乳牙和恒牙过早缺失。掌跖角化病通常在1至4岁之间发病，严重的牙周炎在3或4岁时开始。20%至40%的病例显示存在近亲婚配。对此类患者的牙齿进行管理和保存对牙周病医生来说是一项挑战。基因研究表明，位于11号染色体q14.1-q14.3主要基因座的突变以及组织蛋白酶C（CTSC）基因功能丧失是导致PLS的原因。该综合征的早期诊断有助于通过早期采用多学科方法进行治疗来保存牙齿。我们在此呈现四例具有该综合征所有特征的病例。

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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac72/11819644/8edf1a934c8f/JOMFP-28-694-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac72/11819644/5023c2bc4390/JOMFP-28-694-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac72/11819644/1096111fb880/JOMFP-28-694-g007.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac72/11819644/c7f57dedf5de/JOMFP-28-694-g016.jpg

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本文引用的文献

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A Novel Mutation of the Cathepsin C Gene in Papillon-Lefévre Syndrome.掌跖角化-牙周破坏综合征中组织蛋白酶C基因的一种新突变。
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Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.海姆-蒙克综合征和帕皮永-勒费弗尔综合征是组织蛋白酶C的等位基因突变。
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Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefèvre syndrome. A report of 4 cases.帕皮永-勒费弗尔综合征牙周病的全身与局部联合抗菌治疗。4例报告。
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