Takemiya M, Shiraishi S, Teramoto T, Miki Y
Clin Genet. 1987 Jan;31(1):35-44. doi: 10.1111/j.1399-0004.1987.tb02764.x.
A 38-year-old Japanese male with Bloom's syndrome (BS) and porokeratosis of Mibelli (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 skin cancers.
一名患有布卢姆综合征（BS）和米贝利汗孔角化症（PM）的38岁日本男性发生了多发性皮肤癌和肺癌。存在多个自发性染色体畸变和频繁的姐妹染色单体交换（SCE）。皮肤迟发型超敏反应有缺陷，血清IgM降低。肺癌接受了放疗，放疗有效但导致了严重的肺不张和食管狭窄。患者在一年半后因肺炎死亡。尸检发现患有结肠癌。同时存在的PM被认为是多发性皮肤癌发生的原因。
