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1
Management of a xeroderma pigmentosum case with oral findings in a dental setup.在牙科环境中对一例伴有口腔表现的着色性干皮病病例的管理。
BMJ Case Rep. 2012 Dec 18;2012:bcr2012007521. doi: 10.1136/bcr-2012-007521.
2
Xeroderma pigmentosum: a review and case series.着色性干皮病:综述及病例系列。
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Xeroderma pigmentosum with a giant cutaneous horn.伴有巨大皮角的着色性干皮病
Ann Plast Surg. 2001 Jun;46(6):665-6. doi: 10.1097/00000637-200106000-00029.
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A case of lip squamous cell carcinoma with a familial history of Xeroderma pigmentosum.一例伴有家族性着色性干皮病病史的唇鳞状细胞癌。
Oral Oncol. 2020 Dec;111:104896. doi: 10.1016/j.oraloncology.2020.104896. Epub 2020 Jul 10.
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Atypical fibroxanthoma of the skin and the lower lip in xeroderma pigmentosum.着色性干皮病患者皮肤及下唇的非典型纤维黄色瘤
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Cutaneous angiosarcoma in a patient with xeroderma pigmentosum.一名患有着色性干皮病患者的皮肤血管肉瘤。
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Basosquamous carcinoma and melanoma collision tumor in a child with xeroderma pigmentosum.色素性干皮病患儿的基底鳞状细胞癌和黑色素瘤碰撞瘤。
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[Multiple facial squamous cell carcinomas in a child, revealing a xeroderma pigmentosum].[儿童多发性面部鳞状细胞癌,提示着色性干皮病]
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A young woman with xeroderma pigmentosum complementation group F and a morphoeic basal cell carcinoma.
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引用本文的文献

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Xeroderma pigmentosum: an updated review.着色性干皮病:最新综述
Drugs Context. 2022 Apr 25;11. doi: 10.7573/dic.2022-2-5. eCollection 2022.

本文引用的文献

1
Xeroderma pigmentosum: a case report.着色性干皮病:一例报告。
Pediatr Dent. 2003 Jul-Aug;25(4):397-400.
2
Xeroderma pigmentosum.着色性干皮病
Eur J Dermatol. 2003 Jan-Feb;13(1):4-9.
3
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.患有着色性干皮病的家族中XPC基因的突变及其在细胞、蛋白质和转录水平上的影响。
Cancer Res. 2000 Apr 1;60(7):1974-82.

在牙科环境中对一例伴有口腔表现的着色性干皮病病例的管理。

Management of a xeroderma pigmentosum case with oral findings in a dental setup.

作者信息

Banda Vanaja Reddy, Banda Naveen Reddy, Reddy Ramesh, Banda Praveen

机构信息

Department of Oral Medicine and Radiology, Modern Dental College and Research Centre, Indore, Madhya Pradesh, India.

出版信息

BMJ Case Rep. 2012 Dec 18;2012:bcr2012007521. doi: 10.1136/bcr-2012-007521.

DOI:10.1136/bcr-2012-007521
PMID:23257645
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4543547/
Abstract

Xeroderma pigmentosum (XP) is heterogeneous group of disorder transmitted as autosomal recessive trait. It is characterised by photosensitivity, freckled pigmentation and premature skin ageing and malignant tumour development. The manifestations are due to a cellular hypersensitivity to ultraviolet light resulting from a defect in DNA repair. Multiple cutaneous neoplasms develop at a young age in persons with XP. Two important causes of mortality are metastatic malignant melanoma and squamous cell carcinoma (SCC). We report a case of XP in a 22 year-old male patient who developed SCC of lower lip with in a short period of 1 month.

摘要

着色性干皮病(XP)是一组以常染色体隐性遗传特征传递的异质性疾病。其特征为光敏性、雀斑样色素沉着、皮肤过早老化以及恶性肿瘤形成。这些表现是由于DNA修复缺陷导致细胞对紫外线过敏所致。XP患者在年轻时就会出现多种皮肤肿瘤。转移性恶性黑色素瘤和鳞状细胞癌(SCC)是两个重要的致死原因。我们报告一例22岁男性XP患者,该患者在短短1个月内就发生了下唇鳞状细胞癌。