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本文引用的文献

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Oral and dental phenotype of dyskeratosis congenita.先天性角化不良的口腔和牙齿表型
Oral Dis. 2008 Jul;14(5):419-27. doi: 10.1111/j.1601-0825.2007.01394.x.
2
Dyskeratosis congenita. Report of a case with literature review.先天性角化不良。病例报告并文献复习。
Med Oral Patol Oral Cir Bucal. 2007 Sep 1;12(5):E369-73.
3
Dyskeratosis congenita: oral hyperkeratosis in association with lichenoid reaction.先天性角化不良:口腔角化过度伴苔藓样反应。
J Oral Pathol Med. 2006 Sep;35(8):508-12. doi: 10.1111/j.1600-0714.2006.00434.x.
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Dyskeratosis congenita.先天性角化不良
Semin Hematol. 2006 Jul;43(3):157-66. doi: 10.1053/j.seminhematol.2006.04.001.
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Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.先天性角化不良中的突变:它们对端粒长度的影响及临床表现的多样性。
Blood. 2006 Apr 1;107(7):2680-5. doi: 10.1182/blood-2005-07-2622. Epub 2005 Dec 6.
6
Long-term treatment outcome of oral premalignant lesions.口腔癌前病变的长期治疗结果。
Oral Oncol. 2006 May;42(5):461-74. doi: 10.1016/j.oraloncology.2005.08.011. Epub 2005 Nov 28.
7
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.骨髓衰竭患者端粒酶逆转录酶成分(TERT)的突变。
Blood Cells Mol Dis. 2005 May-Jun;34(3):257-63. doi: 10.1016/j.bcmd.2004.12.008.
8
Cole-Engman syndrome associated with leukoplakia of the tongue: a case report.与舌部白斑相关的科尔-恩格曼综合征:一例报告
J Oral Maxillofac Surg. 1999 Sep;57(9):1138-41. doi: 10.1016/s0278-2391(99)90342-7.
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Dyskeratosis congenita.
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先天性角化不良伴恶性转化

Dyskeratosis congenita with malignant transformation.

作者信息

Ray Jay Gopal, Swain Niharika, Ghosh Ranjan, Pattanayak Mohanty Swetag

机构信息

Department of Oral and Maxillofacial Pathology, Dr R Ahmed Dental College & Hospital, Kolkata, India.

出版信息

BMJ Case Rep. 2011 Jan 11;2011:bcr0320102848. doi: 10.1136/bcr.03.2010.2848.

DOI:10.1136/bcr.03.2010.2848
PMID:22715219
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3029444/
Abstract

Dyskeratosis congenita (DC) is a rare genodermatosis characterised by a classic triad of dystrophic nails, reticular skin pigmentation and mucous membrane leukoplakic patches, which have a high rate of malignant transformation. The case report presented here deals with a sporadic case of DC without similar clinical presentation in the first-degree and second-degree relatives. Of note in this case, there was rapid malignant transformation in the non-homogeneous nodulo-speckled leukoplakic patch on the dorsum of the tongue.

摘要

先天性角化不良(DC)是一种罕见的遗传性皮肤病,其特征为典型的三联征,即甲营养不良、网状皮肤色素沉着和黏膜白斑,后者具有较高的恶变率。本文所呈现的病例报告涉及一例散发性DC病例,其一级和二级亲属中均无类似临床表现。该病例值得注意的是,舌背的非均匀性结节状斑点状白斑出现了快速恶变。