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Macroglossia and lip edema: A case of paraproteinemia-associated scleredema responsive to intravenous immunoglobulins.巨舌症与唇部水肿：一例对静脉注射免疫球蛋白有反应的副蛋白血症相关性硬化性水肿病例。
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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
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Lipoid proteinosis: Review of Indian cases.类脂蛋白沉积症：印度病例综述。
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本文引用的文献

1
Lipoid proteinosis.类脂蛋白沉积症
J Oral Maxillofac Pathol. 2009 Jul;13(2):81-4. doi: 10.4103/0973-029X.57675.
2
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.三种沙特脂质蛋白沉积症家系的分子和神经学特征。
BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31.
3
Severe short stature: an unusual finding in lipoid proteinosis.严重身材矮小：类脂蛋白沉积症中的一种罕见表现。
J Clin Res Pediatr Endocrinol. 2008;1(2):97-101. doi: 10.4008/jcrpe.v1i2.31. Epub 2008 Nov 6.
4
Urbach-Wiethe disease: experience at a tertiary care hospital in Abbottabad, Pakistan.乌尔巴赫-维特病：巴基斯坦阿伯塔巴德一家三级护理医院的经验。
J Ayub Med Coll Abbottabad. 2008 Oct-Dec;20(4):86-9.
5
Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin.细胞外基质蛋白1与细胞外基质成分的相互作用：ECM1是皮肤的一种基底膜蛋白。
J Invest Dermatol. 2008 Jun;128(6):1397-408. doi: 10.1038/sj.jid.5701231. Epub 2008 Jan 17.
6
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.类脂蛋白沉积症中的细胞外基质蛋白1基因（ECM1）突变及基因型-表型相关性
J Invest Dermatol. 2003 Mar;120(3):345-50. doi: 10.1046/j.1523-1747.2003.12073.x.
7
Urbach-Wiethe disease (Lipoid proteinosis).乌尔巴赫-维特病（类脂蛋白沉积症）。
Pediatr Neurosurg. 1998 Apr;28(4):212-4. doi: 10.1159/000028653.
8
Genealogical study of lipoid proteinosis in South Africa.南非类脂蛋白沉积症的谱系研究。
Br J Dermatol. 1970 Sep;83(3):338-40. doi: 10.1111/j.1365-2133.1970.tb15712.x.
9
Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis). A clinical, ultrastructural, and chemical study.乌尔巴赫-维特病（类脂质蛋白沉积症）的神经系统受累：一项临床、超微结构及化学研究
Neurology. 1971 Dec;21(12):1205-13. doi: 10.1212/wnl.21.12.1205.
10
Lipoid proteinosis presenting with neuropsychiatric manifestations.以神经精神症状为表现的类脂蛋白沉积症。
J Neurol Neurosurg Psychiatry. 1985 Dec;48(12):1290-2. doi: 10.1136/jnnp.48.12.1290.

类脂蛋白沉积症的口腔表现：一例报告及文献综述。

Oral manifestations of lipoid proteinosis: A case report and literature review.

作者信息

Ravi Prakash S M, Verma Sankalp, Sumalatha M N, Chattopadhyay Sayan

机构信息

Oral Medicine and Radiology, Kothiwal Dental College and Research Centre, Mora Mustaqueem, Kanth Road, Moradabad, UP 244001, India.

出版信息

Saudi Dent J. 2013 Apr;25(2):91-4. doi: 10.1016/j.sdentj.2012.12.004. Epub 2013 Feb 20.

DOI:10.1016/j.sdentj.2012.12.004
PMID:23960561
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3723256/
Abstract

Lipoid proteinosis is an uncommon autosomal recessive metabolic disorder that presents in early life with hoarseness and pox-like acneiform scars involving the skin and mucous membranes. Previous studies have attributed the prevalence of lipoid proteinosis to consanguineous parents. This paper reports a classical case of lipoid proteinosis with oral manifestations but without a history of consanguinity.

摘要

类脂蛋白沉积症是一种罕见的常染色体隐性代谢紊乱疾病，在生命早期出现，表现为声音嘶哑以及累及皮肤和黏膜的痘样痤疮样瘢痕。以往研究认为类脂蛋白沉积症的患病率与近亲结婚的父母有关。本文报告了一例有口腔表现但无近亲结婚史的典型类脂蛋白沉积症病例。