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先天性角化不良与口腔鳞状细胞癌:一例报告及文献复习

Dyskeratosis Congenita and Oral Cavity Squamous Cell Carcinoma: Report of a Case and Literature Review.

作者信息

Trott Kiley E, Briddell Jenna W, Corao-Uribe Diana, Powell Jonathan, Seecof Olivia M, Levy Carly, Miller Elissa G, Shah Udayan K

机构信息

Departments of Otolaryngology.

Division of Otolaryngology.

出版信息

J Pediatr Hematol Oncol. 2019 Aug;41(6):501-503. doi: 10.1097/MPH.0000000000001478.

Abstract

Dyskeratosis congenita is a rare genetic condition of telomerase dysfunction in which patients are at an increased risk of squamous cell carcinoma (SCCa) of the oral cavity. We present here the youngest patient in the literature with a diagnosis of SCCa. We discuss the literature and management of this advanced presentation of SCCa in a child, stressing the importance of palliative care involvement in facilitating medical decision making.

摘要

先天性角化不良是一种罕见的端粒酶功能障碍的遗传疾病,患者患口腔鳞状细胞癌(SCCa)的风险增加。我们在此报告文献中最年轻的口腔鳞状细胞癌确诊患者。我们讨论了关于儿童期这种晚期口腔鳞状细胞癌表现的文献及治疗方法,强调姑息治疗在促进医疗决策方面的重要性。

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