Bloom's syndrome with porokeratosis of Mibelli and multiple cancers of the skin, lung and colon.
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.
D000230:Adenocarcinoma / Q000150:complications / Q000235:genetics / Q000473:pathology; D000328:Adult; D001816:Bloom Syndrome / Q000150:complications* / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003110:Colonic Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D007642:Keratosis / Q000150:complications* / Q000473:pathology; D008175:Lung Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology