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类脂蛋白沉积症:牙科诊所中的罕见病例。

Lipoid proteinosis: a rare encounter in dental office.

作者信息

Deshpande Prasannasrinivas, Guledgud Mahima Veeranna, Patil Karthikeya, Hegde Usha, Sahni Ankita, Huchanahalli Sheshanna Sreeshlya

机构信息

Department of Oral Medicine & Radiology, JSS Dental College and Hospital, JSS University, Mysore, Karnataka 570015, India.

Department of Oral Pathology and Microbiology, JSS Dental College and Hospital, JSS University, Mysore, Karnataka 570015, India.

出版信息

Case Rep Dent. 2015;2015:670369. doi: 10.1155/2015/670369. Epub 2015 Mar 19.

DOI:10.1155/2015/670369
PMID:25874136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4383431/
Abstract

Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far. This progressive disease has a vast spectrum of manifestations ranging from asymptomatic lesions to fatal seizures and respiratory obstruction making timely diagnosis of this rare disorder an imperative task for oral health care practitioners. We report a case of characteristic oral manifestations of lipoid proteinosis in a 28-year-old male patient along with a review of relevant prevailing literature.

摘要

类脂蛋白沉积症是一种散发性先天性代谢紊乱疾病,其特征是透明物质沉积于真皮、黏膜下结缔组织及各种内脏器官。该病患病率极低,迄今为止报告的病例不足300例。这种进行性疾病有广泛的表现,从无症状病变到致命性癫痫发作和呼吸梗阻,因此及时诊断这种罕见疾病对口腔保健从业者来说是一项紧迫任务。我们报告一例28岁男性患者类脂蛋白沉积症的典型口腔表现,并对相关现有文献进行综述。

相似文献

1
Lipoid proteinosis: a rare encounter in dental office.类脂蛋白沉积症:牙科诊所中的罕见病例。
Case Rep Dent. 2015;2015:670369. doi: 10.1155/2015/670369. Epub 2015 Mar 19.
2
Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature.类脂蛋白沉积症的口腔表现及牙科治疗考量:一例报告并文献综述
J Dent (Shiraz). 2022 Sep;23(3):321-326. doi: 10.30476/DENTJODS.2021.89748.1435.
3
Lipoid proteinosis: Review of Indian cases.类脂蛋白沉积症:印度病例综述。
J Oral Maxillofac Pathol. 2022 Apr-Jun;26(2):236-241. doi: 10.4103/jomfp.jomfp_249_21. Epub 2022 Jun 28.
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Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update.一名10岁女性脂蛋白沉积症的口腔表现:病例报告及文献综述
Oral Surg Oral Med Oral Pathol Oral Radiol. 2018 Oct;126(4):e228-e232. doi: 10.1016/j.oooo.2018.01.025. Epub 2018 Feb 14.
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Lipoid proteinosis of the small bowel.
Arch Pathol Lab Med. 1994 May;118(5):572-4.
6
Urbach-Wiethe disease (lipoid proteinosis).乌尔巴赫-维特病(类脂蛋白沉积症)。
Indian J Pathol Microbiol. 2012 Jul-Sep;55(3):375-6. doi: 10.4103/0377-4929.101749.
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Lipoid proteinosis: A review with two case reports.类脂蛋白沉积症:附两例报告的综述
Contemp Clin Dent. 2015 Apr-Jun;6(2):233-6. doi: 10.4103/0976-237X.156053.
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[Lipoid proteinosis].[类脂蛋白沉积症]
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Esophageal Aperistalsis in a Patient with Lipoid Proteinosis.类脂蛋白沉积症患者的食管无蠕动
Middle East J Dig Dis. 2018 Jan;10(1):55-58. doi: 10.15171/mejdd.2017.92. Epub 2018 Jan 14.
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Lipoid proteinosis.类脂蛋白沉积症
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引用本文的文献

1
Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature.类脂蛋白沉积症的口腔表现及牙科治疗考量:一例报告并文献综述
J Dent (Shiraz). 2022 Sep;23(3):321-326. doi: 10.30476/DENTJODS.2021.89748.1435.
2
Lipoid proteinosis: Review of Indian cases.类脂蛋白沉积症:印度病例综述。
J Oral Maxillofac Pathol. 2022 Apr-Jun;26(2):236-241. doi: 10.4103/jomfp.jomfp_249_21. Epub 2022 Jun 28.
3
Ocular manifestations in lipoid proteinosis: A rare clinical entity.类脂蛋白沉积症的眼部表现:一种罕见的临床病症。

本文引用的文献

1
Oral manifestations of lipoid proteinosis: A case report and literature review.类脂蛋白沉积症的口腔表现:一例报告及文献综述。
Saudi Dent J. 2013 Apr;25(2):91-4. doi: 10.1016/j.sdentj.2012.12.004. Epub 2013 Feb 20.
2
Lipoid proteinosis mimicking congenital immunodeficiency: a case report.类脂性蛋白质沉积症酷似先天性免疫缺陷:一例报告
Australas Med J. 2011;4(3):155-9. doi: 10.4066/AMJ.2011.635. Epub 2011 Mar 31.
3
A novel association of the additional intracranial calcification in lipoid proteinosis: a case report.类脂蛋白沉积症中额外颅内钙化的一种新关联:一例报告
Indian J Ophthalmol. 2015 Oct;63(10):793-5. doi: 10.4103/0301-4738.171517.
J Clin Diagn Res. 2012 Nov;6(9):1579-81. doi: 10.7860/JCDR/2012/4481.2569.
4
Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.类脂蛋白沉积症。两例同胞病例报告及文献简要综述。
Saudi Med J. 2008 Aug;29(8):1188-91.
5
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).类脂蛋白沉积症定位于1q21,由细胞外基质蛋白1基因(ECM1)突变引起。
Hum Mol Genet. 2002 Apr 1;11(7):833-40. doi: 10.1093/hmg/11.7.833.
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Lipoid proteinosis.
Int J Dermatol. 2000 Mar;39(3):203-4. doi: 10.1046/j.1365-4362.2000.00816.x.
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[Ocular manifestations of the Urbach-Wiethe Syndrome. Hyalitis of the skin and the mucosa].
Ophthalmologica. 1968;155(6):433-48. doi: 10.1159/000305345.