Hyperplasies sébacées, kérato-acanthomes, épithéliomas du visage et cancer du colon

Abstract

Numerous skin lesions: sebaceous hyperplasias, benign acanthoma, keratoacanthomas and squamous cell epitheliomas appeared on the face, especially on the nose, on the cheeks and around the lips of a 45-year-old obese man with mild diabetes. In 1969, an adenocarcinoma had been found in the rectosigmoid and another one in the colon. In 1974, an excision of a well-differenciated epidermoid carcinoma was performed in the right external auditory meatus. A rectoscopy showed a micropolyp at the rectosigmoid junction. In 1975, an abdominal exploration was performed following a sudden relapse of about 50 skin lesions in the face, partly sebaceous adenomas, partly sebaceous gland épithéliomas, and about 10 precancerous lesions on the dorsum of the hands. A villous adenoma of the colon was removed. Inheritance appears to the autosomal dominant with variability in the expressiveness of the cutaneo-intestinal symptoms.

DNA repair systems

“…Muta ons at the MSH2 and MLH1 loci may also produce Muir-Torre syndrome phenotype, characterised by a constella on of sebaceous skin tumours and cancer of various internal organs (including tumours of the gastrointes nal tract) [569]. Since HNPCC, unlike FAP, does not produce polyps (which may alert the individual about the increased cancer risk), the rou ne screening programmes cons tute crucial part in the preven on of colorectal cancer in HNPCC.…”

Tumor Conference #44

“…Keratoacanthomas seem to be a feature of Torre's syndrome. In 1976 Reiffers et al 4 reported a patient with sebaceous gland hyperplasias, keratoacanthomas, squamous‐cell epitheliomas of the face, and cancer of the colon. Fahmy et al 5 have suggested the name Muir‐Torre syndrome for the constellation of multiple internal malignancies, sebaceous proliferations, and keratoacanthomas, pointing out that Muir et al had published such a case in 1967 6 .…”