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结节性硬化症复合体:一例报告。

Tuberous sclerosis complex: A case report.

作者信息

Sarkar Soumyabrata, Khaitan Tanya, Sinha Rupam, Kabiraj Arpita

机构信息

Department of Oral Medicine and Radiology, Haldia Institute of Dental Sciences and Research, Purba Medinipur, Haldia, West Bengal, India.

Department of Oral Pathology and Microbiology, Haldia Institute of Dental Sciences and Research, Purba Medinipur, Haldia, West Bengal, India.

出版信息

Contemp Clin Dent. 2016 Apr-Jun;7(2):236-9. doi: 10.4103/0976-237X.183071.

DOI:10.4103/0976-237X.183071
PMID:27307675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4906871/
Abstract

Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex.

摘要

结节性硬化症是一种罕见的常染色体显性神经皮肤综合征,其特征是在影响大脑、皮肤、视网膜和内脏的不同身体系统中出现良性肿瘤。它的特点是皮肤改变、神经系统疾病以及多个器官中错构瘤的形成,从而导致发病和死亡。最常见的口腔表现是纤维瘤、牙龈增生和釉质发育不全。这些患者的治疗通常需要多学科参与,涉及各个领域的专家。在此,我们报告一例26岁男性患者,具有结节性硬化症的典型临床、放射学和组织学特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/315c185ad0cf/CCD-7-236-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/03a956ae44e6/CCD-7-236-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/67aef5be2788/CCD-7-236-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/97de791c03ad/CCD-7-236-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/315c185ad0cf/CCD-7-236-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/03a956ae44e6/CCD-7-236-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/67aef5be2788/CCD-7-236-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/97de791c03ad/CCD-7-236-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79a2/4906871/315c185ad0cf/CCD-7-236-g004.jpg

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本文引用的文献

1
Tuberous sclerosis complex diagnosed from oral lesions.从口腔病变诊断出结节性硬化症复合体。
Sao Paulo Med J. 2013;131(5):351-5. doi: 10.1590/1516-3180.2013.1315441.
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Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.结节性硬化症综合诊断标准更新:2012 年国际结节性硬化症共识会议推荐。
Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.
3
Tuberous sclerosis complex with oral manifestations: a case report and literature review.
癫痫相关结节性硬化症;来自孟加拉国的一例病例报告。
Ann Med Surg (Lond). 2022 May 11;78:103738. doi: 10.1016/j.amsu.2022.103738. eCollection 2022 Jun.
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Congenital cardiac masses: a case report.先天性心脏肿块:病例报告。
J Med Case Rep. 2022 Apr 22;16(1):166. doi: 10.1186/s13256-022-03371-1.
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Diagnostic features of tuberous sclerosis complex: case report and literature review.结节性硬化症复合体的诊断特征:病例报告与文献综述
Quant Imaging Med Surg. 2022 Jan;12(1):846-861. doi: 10.21037/qims-21-412.
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Incidental case finding of a 19-year-old woman with Tuberous Sclerosis Complex: A step-wise Multidisciplinary approach.一名19岁结节性硬化症女性患者的偶然病例发现:一种逐步的多学科方法。
Clin Case Rep. 2021 Oct 6;9(10):e04933. doi: 10.1002/ccr3.4933. eCollection 2021 Oct.
结节性硬化症的口腔表现:病例报告及文献复习。
Med Oral Patol Oral Cir Bucal. 2011 Jul 1;16(4):e478-81. doi: 10.4317/medoral.16.e478.
4
Misdiagnosis of tuberous sclerosis in a Nigerian girl: a case report and review of literature.一名尼日利亚女孩结节性硬化症的误诊:病例报告及文献综述
Ann Afr Med. 2010 Apr-Jun;9(2):95-101. doi: 10.4103/1596-3519.64754.
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Tuberous sclerosis complex: report of two intrafamilial cases, both in mother and daughter.结节性硬化症复合体:两例家族内病例报告,均为母女。
Rom J Morphol Embryol. 2009;50(1):119-24.
6
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.美国325例因结节性硬化症复合体诊断而接受检查的个体的基因型/表型相关性。
Genet Med. 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7.