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一例伴有家族性着色性干皮病病史的唇鳞状细胞癌。

A case of lip squamous cell carcinoma with a familial history of Xeroderma pigmentosum.

机构信息

Rambam Hospital, Private Clinics, Haifa, Palestine.

Faculty of Medicine, University of Algiers, Algiers, Algeria.

出版信息

Oral Oncol. 2020 Dec;111:104896. doi: 10.1016/j.oraloncology.2020.104896. Epub 2020 Jul 10.

DOI:10.1016/j.oraloncology.2020.104896
PMID:32654871
Abstract

Xeroderma pigmentosum is an orphan hereditary photosensitive human disorder that is recognized by the development of skin lesions in sun-exposed regions of the body due to severe photosensitivity. Patients with this condition have an abnormal DNA repair process due to a genetic mutation. Xeroderma pigmentosum is considered as a risk factor of cancer since the affected population may develop various cutaneous cancers including both melanoma and non-melanoma cutaneous malignancies even at a younger age than the general population. This risk concerns also asymptomatic heterozygote individuals. Here, we present a case of 46 years old man with a familial history of Xeroderma pigmentosum who developed a microscopically confirmed squamous cell carcinoma of the lip.

摘要

着色性干皮病是一种罕见的遗传性光敏性皮肤疾病,其特征是由于严重的光敏感性,在身体暴露于阳光的部位出现皮肤损伤。由于基因突变,患有这种疾病的患者的 DNA 修复过程异常。着色性干皮病被认为是癌症的一个风险因素,因为受影响的人群可能会患上各种皮肤癌,包括黑色素瘤和非黑色素瘤皮肤恶性肿瘤,甚至比普通人群更早。这种风险也涉及无症状的杂合子个体。在这里,我们介绍了一位 46 岁的男性患者,他有家族着色性干皮病史,患有经显微镜证实的唇鳞状细胞癌。

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Oral Oncol. 2020 Dec;111:104896. doi: 10.1016/j.oraloncology.2020.104896. Epub 2020 Jul 10.
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