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Bloom's syndrome with porokeratosis of Mibeili and multiple cancers of the skin, lung and colon

 

作者: Masataka Takemiya,   Satoshi Shiraishi,   Tatsuyuki Teramoto,   Yoshiharu Miki,  

 

期刊: Clinical Genetics  (WILEY Available online 1987)
卷期: Volume 31, issue 1  

页码: 35-44

 

ISSN:0009-9163

 

年代: 1987

 

DOI:10.1111/j.1399-0004.1987.tb02764.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Bloom syndrome;colonic neoplasm;keratosis;lung neoplasm;skin neoplasm

 

数据来源: WILEY

 

摘要:

A 38‐year‐old Japanese male with Bloom's syndrome (BS) and porokeratosis of Mibeili (PM) developed multiple carcinomas of the skin and lung. There were multiple, spontaneous chromosomal aberrations and frequent sister chromatid exchanges (SCE). Cutaneous delayed‐type hypersensitivity reactions were defective and serum IgM was decreased. The lung cancer was treated with radiation, which was effective but caused a severe pulmonary atelectasis and esophageal stricture. The patient expired one‐and‐a‐half years later because of pneumonia. Autopsy disclosed an adenocarcinoma of the colon. The concurrent PM was considered responsible for the occurrence of multiple s

 

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