[Sclero-atrophic and keratodermic genodermatosis of the extremities].
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Biomedical subjects
Publications and source records attributed to D Lambert.
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The authors report a case of epidermolysis bullosa dystrophica and albo-papuloidea, which led them to the discovery of eight similar cases in the same family. After analysing the main symptoms, including the histological ones, they underline the ultrastructural and genetic data. This disease can be described as a dermolysis bullosa with missing fibrils, abnormal connective tissue and an intense activity of fibroblasts. As far as we know, there is no genetic relationship with the HLA system in this dominant hereditary trouble, which is believed to be transmitted through different non-allelic genes.
The E. A. D. is a genodermatosis characterised by absence or important diminuation of sweat glands. The study of 3 children of different families allows us to identify the diagnostic elements: typical facial signs, anhidrosis, rarity of teeth "buds", abnormalities of dermatoglyphes. This diagnosis must be established early, to protect the newborn from accidents of overheating caused by perspiration insufficiency. The sweat glands are not affected alone: exocrine glands also, explaining the fragility of the upper respiratory tract in such patients. The teeth abnormalities are important and need replacement by false teeth, carefully done at an early date and continued later on. Genetic investigation is indispensable to discover women who carry the disease, with a high risk of transmission to their children.
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In an effort to further delineate the mechanism of infection and pathogenicity of Mycoplasma pneumoniae infections, the hamster and guinea pigs were used as experimental models. These animals were chosen because of previous experience. The local antibody response in addition to organism growth patterns were examined in detail. Histological examination was carried out to determine the pathological lesions which occur. The significance of these findings is discussed.
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The authors present a pathological study of the skin in a 62 year-old man with facial pigmentation due to amiodarone. They found under the light microscope, cells resembling histiocytes filled with pigment. They were less numerous than usually reported, but were found associated with a pericapillary and periglandular lymphocytic infiltration, which raises the problem of iatrogenic lupus or Jessner-Kanoff's disease. Examination under the electron microscope, permitted identification of 5 groups of granulations, three of which had already been observed by Mrs. Fagola. These pigments correspond to lipofuscins, melanin, but also yet unidentified substances, may be metabolites of amiodarone.
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