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PubMed1974

Multiple sebaceous gland tumours associated with polyposis of the colon and bony abnormalities.

The cases are presented of two siblings with multiple cutaneous tumours associated with adenomatous polyps of the colon and bony abnormalities. In one patient an adenocarcinoma of the colon supervened, and there was a history of adenocarcinoma of the colon without the presence of other abnormalities in a third sibling. Clinically the sebaceous tumours resembled sebaceous hyperplasia, but histologically they exhibited features of sebaceous adenoma.The association of a variety of multiple soft tissue tumours, particularly epidermal cysts, with polyposis of the colon and bony abnormalities is well recognized. However, multiple solid sebaceous tumours have not been reported previously as a feature of this syndrome. They should in future alert the physician to the possible presence of multiple polyposis of the colon in affected individuals and immediate relatives.

Adenocarcinoma, Papillary↗
PubMed1975

Lipid biosynthesis in the sebaceous glands: synthesis of multibranched fatty acids from methylmalonyl-coenzyme A in cell-free preparations from the uropygial gland of goose.

Cell-free extracts from the uropygial gland of goose catalyzed the incorporation of malonyl-CoA and methylmalonyl-CoA into n- and multi-branched fatty acids, respectively, with NADPH as the preferred reductant. Methylmalonyl-CoA was shown to be incorporated almost exclusively into the acyl portion of wax esters by the cell-free extract while malonyl-CoA was incorporated into polar lipids and both the acyl and alcohol portions of the wax. The optimal pH for the synthesis of both n- and multibranched acids was 6.0. Apparent Km and Vmax for malonyl-CoA were 2 times 10- minus-4 M and 250 nmol per min per mg, respectively, while the Km and Vmax for methylmalonyl-CoA were 7.7 times 10- minus-4 M and 0.8 nmol per min per mg, respectively with 105,000g supernatant; but partial purification resulted in a tenfold decrease in Km values. The partially purified synthetase preparation catalyzed the formation of n-C16 acid (80%) and n-C18 acid (20%) from acetyl-CoA and malonyl-CoA. With the same synthetase preparation and the appropriate primer methylmalonyl-CoA was converted into 2,4,6,8-tetramethyldecanoic acid and 2,4,6,8-tetramethylundecanoic acid which were identified by radio gas-liquid chromatography and combined gas chromatography-mass spectrometry. Experiments with an equimolecular mixture of acetyl-CoA and propionyl-CoA showed that the synthetase preferred acetyl-CoA as a primer. Since malonyl-CoA is known to be rapidly decarboxylated in the gland, acetyl-CoA and methylmalonyl-CoA are expected to be the major primer and elongating agent, respectively, available in the gland and therefore 2,4,6,8-tetramethyldecanoic acid should be the major product. Combined gas-liquid chromatography and mass spectrometry demonstrated that this acid was in fact the major acid of the gland.

Animals↗
PubMed2006

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal-dominant disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A main clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. In our study, we have screened a cohort of 538 HNPCC patients, related to 57 HNPCC families, to detect sebaceous skin tumors and keratoacanthomas and the role of mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, in their pathogenesis. Among the 57 HNPCC families, we have identified four MTS families and one suspected MTS family, in which sebaceous carcinoma was found in one HNPCC mutation carrier subject who did not show visceral malignancy. In four of these families, linked to two MLH1 mutations and to two MSH2 mutations, biomolecular characterization showed concordance among immunohistochemistry analysis and gene mutations. The evidences of our investigations show that MLH1 and MSH2 gene mutations have an equivalent etiopathological role both for Lynch syndrome and for MTS; hence, we propose a broadened clinical criteria for definition of Lynch syndrome that will include sebaceous adenoma, carcinoma, and keratoacanthoma.

Adaptor Proteins, Signal Transducing↗
PubMed2006

Ectopic modified sebaceous glands in human penis.

The balanopreputial sulcus is believed to be the most frequent site of the so-called Tyson's glands. The intriguing feature of these anatomical structures is their mere existence, which has been doubted. Herein, the authors present a case of a 24-year-old man who underwent surgical treatment of his phimosis. On microscopic examination of the specimen, glands with morphological features similar to those described by Tyson were noted.

Adult↗