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口腔白色海绵状痣:一例罕见病例报告。

Oral White Sponge Nevus: A Rare Case Report.

作者信息

Hosseinpour Sarmadi Maryam, Javadzadeh Farshad, Taghavi Zenouz Mahsa, Zohrabi Mina

机构信息

Department of Oral & Maxillofacial Medicine, Faculty of Dentistry Tabriz University of Medical Sciences Tabriz Iran.

Faculty of Medicine Tabriz University of Medical Sciences Tabriz Iran.

出版信息

Clin Case Rep. 2025 Aug 30;13(9):e70833. doi: 10.1002/ccr3.70833. eCollection 2025 Sep.

DOI:10.1002/ccr3.70833
PMID:40893399
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12398418/
Abstract

White sponge nevus (WSN) is a rare, benign genetic disorder characterized by distinctive white or gray mucosal lesions, most commonly affecting the oral cavity. Inherited in an autosomal dominant pattern, WSN results from mutations in keratin genes-primarily KRT4 and KRT13. These mutations lead to the development of thick, spongy plaques in the oral mucosa, with extraoral involvement more commonly associated with KRT13 mutations. The condition typically manifests in early childhood, presenting as painless, persistent white plaques. Diagnosis is usually based on clinical evaluation, although histopathological examination can provide confirmation. WSN is generally asymptomatic and does not require treatment; however, its cosmetic appearance may cause psychological discomfort. Although malignant transformation is rare, certain antimicrobial therapies have shown promise in symptom management. This report describes a case of WSN in a 23-year-old Iranian woman, detailing the clinical presentation, diagnostic process, and potential treatment strategies. Despite its benign nature, further research into the pathogenesis and therapeutic options is essential to improve patient care and quality of life.

摘要

白色海绵状痣(WSN)是一种罕见的良性遗传性疾病,其特征为独特的白色或灰色黏膜病变,最常累及口腔。WSN以常染色体显性模式遗传,由角蛋白基因(主要是KRT4和KRT13)突变引起。这些突变导致口腔黏膜出现增厚的海绵状斑块,口外受累更常与KRT13突变相关。该病通常在儿童早期出现,表现为无痛性、持续性白色斑块。诊断通常基于临床评估,不过组织病理学检查可提供确诊依据。WSN一般无症状,无需治疗;然而,其外观可能会引起心理不适。虽然恶变罕见,但某些抗菌疗法在症状管理方面已显示出前景。本报告描述了一名23岁伊朗女性的WSN病例,详细介绍了临床表现、诊断过程及潜在治疗策略。尽管其本质为良性,但进一步研究发病机制和治疗选择对于改善患者护理和生活质量至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/cbfb65733ec7/CCR3-13-e70833-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/309aabfa7e08/CCR3-13-e70833-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/7f23aee420a5/CCR3-13-e70833-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/cbfb65733ec7/CCR3-13-e70833-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/309aabfa7e08/CCR3-13-e70833-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/7f23aee420a5/CCR3-13-e70833-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e40/12398418/cbfb65733ec7/CCR3-13-e70833-g002.jpg

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本文引用的文献

1
Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.白色海绵状痣恶变:一例新型角蛋白 4 突变的病例报告。
BMC Oral Health. 2024 May 21;24(1):588. doi: 10.1186/s12903-024-04300-y.
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A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.一例罕见的口腔白色海绵状痣临床病例及其鉴别诊断中的相关挑战。
Case Rep Dent. 2024 Mar 18;2024:2251450. doi: 10.1155/2024/2251450. eCollection 2024.
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Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series.
用于白色海绵状痣诊断的非侵入性方法:病例系列的脱落细胞学和基因分析
Bioengineering (Basel). 2023 Jan 23;10(2):154. doi: 10.3390/bioengineering10020154.
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A Case Report on Familial White Sponge Nevus in Saudi Arabia.沙特阿拉伯家族性白色海绵状痣病例报告
Cureus. 2022 Dec 18;14(12):e32674. doi: 10.7759/cureus.32674. eCollection 2022 Dec.
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White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.角化蛋白 4 基因突变致白色海绵状斑痣 1 例报告
Genes (Basel). 2022 Nov 22;13(12):2184. doi: 10.3390/genes13122184.
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Successful Treatment of White Sponge Nevus With Oral Doxycycline: A Case Report and Review of the Literature.
Actas Dermosifiliogr (Engl Ed). 2021 May;112(5):463-466. doi: 10.1016/j.ad.2019.10.009. Epub 2020 Nov 18.
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A novel keratin 13 variant in a four-generation family with white sponge nevus.一个患有白色海绵状痣的四代家族中的一种新型角蛋白13变体。
Clin Case Rep. 2017 Jul 29;5(9):1503-1509. doi: 10.1002/ccr3.1073. eCollection 2017 Sep.