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D. Broekaert C. Pattin P. Coucke J. De Bersaques J. Marquet 《European archives of oto-rhino-laryngology》1990,247(5):312-317
Summary A histochemical study was performed to determine the involvement of epidermal transglutaminase (ETgase) in the keratinization of middle ear cholesteatomatous lesions, and to compare it with its role in the middle ear mucosa and epidermis. In a first assay, we localized the (E)Tgase activity in situ. A second immunohistochemical assay revealed the distribution of the particulate form of ETgase, which is involved in cross-linked envelope formation. A remarkable difference between strongly keratinized epidermal tissues and the cholesteatoma matrix is the frequent observation in the latter of the remnants of (E)Tgase activity in cytosol, even in advanced stages of differentiation. As a consequence, the cell-membrane-associated ETgase activity, and thus the extent of cross-linking within the envelope, is at a lower level than expected. This aspect is reminiscent of the keratinization phenomenon manifested by thin epidermal tissues. In addition, our findings are the first to show that ETgase is a substantial marker of middle ear mucosa.This paper is dedicated to the memory of Prof. E. Gillis, deceased 3 August 1988, aged 51. His guidance will be sorely missed by those who knew and worked with him. 相似文献
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T Gedde-Dahl Jr O Trygstad L Van Maldergem J Magré CB van der Hagen B Olaisen M Stenersen B Mevåg The Berardinelli-Seip Study Group 《Acta paediatrica (Oslo, Norway : 1992)》1996,85(S413):52-58
Five of the six families with the Berardinelli Seip syndrome in Norway cluster in six adjacent rural municipalities of south-western Norway. The six patients from this area were born between 1951 and 1973, none between 1974 and 1995. The absence of new cases may be explained by a decrease in the intraregion marriage rate and inbreeding. Genealogical investigations show that the mutation must have occurred at least 400 years ago. The sixth family was clinically different and geographically sporadic from a Finnish-descent rural East Norwegian population. A genetic linkage study of all six families revealed fresh crossovers versus the disease allele in nine DNA marker systems and the absence of recombination in three (maximum lod score + 1.3). None of the last showed allelic association. These families are included in an international effort to map the CLBS locus. The patients have been included in the homozygosity testing of totally 28 patients in an international collaborative study. The three patients, assumed identical in descent from both parents, were jointly homozygous in none of the 250 dinucleotide markers tested. A heterochromatic 9qh + segregated from one parent in two families. 相似文献
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Blue rubber-bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by multiple cavernous hemangiomas of the skin, mucosae and frequently of other sites. A 49-year-old male patient had been affected since birth by multiple angiomas localized in the skin, lips, oral cavity, cranial theca, and central nervous system; intrauterine rupture of angiomas in the right parietal lobe had caused partial hypotrophic paralysis of the left hemisoma. In addition to BRBNS, the patient was affected by three osteoid osteomas: this never-described clinical association is here discussed. 相似文献
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We present an 11-year-old girl, with celiac disease, and a 9- month history of itchy and erythemato-edematous lesions with vesicles and exudation on her nipples and areolas. No other lesions or signs of scratching were present on her face or folds. She had no specific lesions of atopic dermatitis in typical sites nor in other body surface during her life. Patch tests showed a positive reaction to nickel and thimerosal that was not significantly related to the clinical appearance. This presentation documents the clinical relevance of atopic dermatitis minor diagnostic criteria. We discuss the importance of nipple eczema in AD and its differential diagnosis. 相似文献
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A 52-year-old woman in good health with a family history negative for dermatologic diseases presented to our department with thickening and dystrophy of all her fingernails and toenails that started when she was born. She also had hyperkeratosis on the palms of her hands and soles of her feet that was confined to sites of pressure and recurrent plantar blisters that began appearing at puberty. The patient reported marked pain while walking from such plantar involvement. Her medical history revealed a persistent hoarseness; palmoplantar hyperhidrosis; and the appearance of numerous cysts on her back, neck, and scalp since she was 20 years old. These latter lesions had been diagnosed as multiple steatocystoma on the basis of the histologic features. Upon examination, all of her fingernails and toenails appeared shortened, thickened,and dystrophic (Figures 1-3). In addition, they presented subungual keratosis and a yellowish-gray color. Hyperkeratosis and small ulcerations were present on the perionychium. Palmoplantar keratoderma was evident, especially on the soles,in association with superficial erosions (Figure 4). Keratosis pilaris was evident on the extensor surfaces of the forearms as well as on the anterior surfaces of the legs. Multiple nodules were detected on the patient's neck, trunk, and axillary regions(Figure 5). They consisted of multiplex steatocystoma and were characterized by a hemispheric shape, a normal-appearing skin color, and by an elastic consistency on palpation. Oral and dental changes were not detected, although hair anomalies were evident. Laboratory parameters disclosed eosinophilia and increased total IgE levels. The results of serum protein electrophoresis was normal, as were those concerning hepatic and renal functions. The ophthalmology examination showed neither corneal dyskeratosis nor cataracts. The neurologic-psychiatric visit revealed slight mental retardation. 相似文献
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