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西班牙一家族中伴发食管鳞状细胞癌的先天性厚皮症。

Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family.

机构信息

Gastroenterology Service, Complexo Hospitalario Universitario de A Coruña, Spain.

出版信息

Eur J Gastroenterol Hepatol. 2011 Mar;23(3):286-8. doi: 10.1097/MEG.0b013e328344042d.

DOI:10.1097/MEG.0b013e328344042d
PMID:21285883
Abstract

Palmoplantar tylosis is a focal nonepidermolytic palmoplantar hyperkeratosis, which is inherited as an autosomal dominant condition. Two types have been described: an early onset type B tylosis, which occurs in the first year of life and is usually benign, and type A tylosis, which occurs between the ages of 5 and 15 years. Type A tylosis has been associated with a high incidence of oesophageal carcinoma in three families in England, Germany and the USA. This study describes an additional family from Spain with tylosis A, without any known relation to those described before.

摘要

掌跖过度角化症是一种局灶性非大疱性掌跖过度角化症,呈常染色体显性遗传。有两种类型:早发型 B 型过度角化症,发生于生命的第一年,通常为良性;A型过度角化症,发生于 5 至 15 岁之间。A型过度角化症与英格兰、德国和美国的三个家庭的食管癌高发率有关。本研究描述了来自西班牙的另一个 A 型过度角化症家族,与以前描述的家族没有任何已知的关系。

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Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family.西班牙一家族中伴发食管鳞状细胞癌的先天性厚皮症。
Eur J Gastroenterol Hepatol. 2011 Mar;23(3):286-8. doi: 10.1097/MEG.0b013e328344042d.
2
Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q.17号染色体q臂上的 tylosis食管癌(TOC)基因区域散发性食管肿瘤中的杂合性缺失
Oncogene. 1998 Oct 22;17(16):2101-5. doi: 10.1038/sj.onc.1202139.
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To B or not to B: is tylosis B truly benign? Two North American genealogies.是B型还是非B型:B型掌跖角化症真的是良性的吗?两个北美家系。
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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.伴食管癌的掌跖角化病:诊断、管理及分子机制
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Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression.位于17q25的细胞珠蛋白基因在食管癌伴掌跖角化症(TOC)中的下调:反式等位基因抑制的证据
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Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.内披蛋白,一种可能的局灶性先天性无汗性外胚层发育不良/食管癌(TOC)候选基因:17q25上TOC区域遗传图谱与物理图谱的整合
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Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer.17号染色体长臂25.1区的掌跖角化症食管癌位点在散发性人类食管癌中常发生缺失。
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Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus.17q25上一个500 kb区域的特征分析以及作为家族性掌跖角化症食管癌(TOC)基因座的候选基因排除。
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