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先天性鱼鳞病的牙齿异常：病例报告及文献综述

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.

作者信息

Maarouf Sarah, Clark Marie, Chen Anthony, Haggstrom Anita

机构信息

Indiana University School of Medicine, Indianapolis, Indiana, USA.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

出版信息

Pediatr Dermatol. 2025 Mar-Apr;42(2):305-310. doi: 10.1111/pde.15841. Epub 2024 Dec 10.

DOI:10.1111/pde.15841
PMID:39659087
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11950801/
Abstract

We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration. This review describes subsets of ichthyoses that have been reported in association with dental anomalies, highlighting the need for early dental referral and importance of long-term follow-up.

摘要

我们描述了一名患有角膜炎-鱼鳞病-耳聋（KID）综合征和 natal 牙的 1 日龄女性。基因分析证实了与 KID 综合征一致的 GJB2 263C 和 A88V 新生致病性变异。及时拔除 natal 牙以避免误吸风险。本综述描述了已报道的与牙齿异常相关的鱼鳞病亚组，强调了早期牙科转诊的必要性和长期随访的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e083/11950801/ea0d14e13e10/PDE-42-305-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e083/11950801/e472bd5570de/PDE-42-305-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e083/11950801/ea0d14e13e10/PDE-42-305-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e083/11950801/e472bd5570de/PDE-42-305-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e083/11950801/ea0d14e13e10/PDE-42-305-g002.jpg

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本文引用的文献

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Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.Claudin-10 缺乏对釉质形成的影响：来自 HELIX 牙的启示。
Ann N Y Acad Sci. 2022 Oct;1516(1):197-211. doi: 10.1111/nyas.14865. Epub 2022 Jul 28.
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Natal and neonatal teeth: a review and case series.出生牙和新生牙：综述及病例系列
Br Dent J. 2022 Apr;232(7):449-453. doi: 10.1038/s41415-022-4091-3. Epub 2022 Apr 8.
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A New Splice-site Mutation of Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.Netherton综合征中具有不同临床特征的基因新剪接位点突变：病例报告
Balkan J Med Genet. 2020 Aug 26;23(1):91-94. doi: 10.2478/bjmg-2020-0012. eCollection 2020 Jun.
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Compound heterozygous mutations in the gene cause Sjögren-Larsson syndrome: a case report.基因中的复合杂合突变导致干燥综合征-莱尔综合征：一例报告。
Int J Neurosci. 2020 Nov;130(11):1156-1160. doi: 10.1080/00207454.2020.1716750. Epub 2020 Jan 29.
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The power of saliva: Antimicrobial and beyond.唾液的力量：抗菌及其他作用
PLoS Pathog. 2019 Nov 14;15(11):e1008058. doi: 10.1371/journal.ppat.1008058. eCollection 2019 Nov.
6
Developmental defects of enamel and dental caries in the primary dentition: A systematic review and meta-analysis.乳牙的釉质发育缺陷和龋齿：系统评价和荟萃分析。
J Dent. 2017 May;60:1-7. doi: 10.1016/j.jdent.2017.03.006. Epub 2017 Mar 24.
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Keratins as components of the enamel organic matrix.角蛋白作为牙釉质有机基质的组成成分。
Matrix Biol. 2016 May-Jul;52-54:260-265. doi: 10.1016/j.matbio.2015.12.007. Epub 2015 Dec 17.
8
Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.一名具有严重板层状鱼鳞病表型的中国患者中的新型转谷氨酰胺酶1突变
Indian J Dermatol Venereol Leprol. 2015 May-Jun;81(3):292-4. doi: 10.4103/0378-6323.154786.
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Ectodermal dysplasia: a genetic review.外胚层发育不良：遗传学综述
Int J Clin Pediatr Dent. 2012 Sep;5(3):197-202. doi: 10.5005/jp-journals-10005-1165. Epub 2012 Dec 5.
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Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient.一名2岁常染色体隐性遗传性先天性鱼鳞病患者的口腔表现
Case Rep Dent. 2014;2014:483293. doi: 10.1155/2014/483293. Epub 2014 Jun 5.