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Biomedical subjects

M Faure

Publications and source records attributed to M Faure.

273 records · Page 16Linked to original sources

[The 49 XXXXY syndrome. Report of a further case with leg ulcer and endocrine abnormalities (author's transl)].

A 40 years old man with 49 XXXXY chromosomes is reported who has been suffering from a leg ulcer for many years. Clinical features were those usually seen in patients with the 49 XXXXY syndome. Low plasma testosterone level, elevated LH and FSH levels, and thyroid dysfunction wigh high peripheral blood TSH levels were the main endocrine anomalies in this patient. The association between the occurence of leg ulcers and sex chromosome anomalies is discussed. The endocrine dysfunction in this patient is compared to the endocrine features of Klinefelter's syndrome.

Adult↗

Expression of the intermediate filament peripherin in skin tumors.

Peripherin is a neuronal intermediate filament reportedly expressed in neuroendocrine skin carcinomas and some melanocytic tumors. In order to assess the diagnostic usefulness of antibodies to peripherin in dermatopathology, we studied its expression in 68 skin tumors mostly of neural origin, and compared this expression with that of neurofilaments, a well-established neuronal marker. Antibodies to peripherin and neurofilaments both labeled dermal neurons present in normal skin and within the tumors. Specific labeling of tumor cells for peripherin was seen in only 2/5 neuroendocrine skin carcinomas, 3/18 benign nevi and 7/19 melanomas; even in these cases the percentage of tumor cells did not exceed 20%. We conclude that antibodies to peripherin may be used for the demonstration of cutaneous neurons in normal and diseased skin; however their diagnostic usefulness appears limited, less than that of antibodies to neurofilaments.

Humans↗