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Pathogenetische Fragen zum Darier-Grönblad-Strandberg Syndrom

The Pathogenesis of Darier-Grönblad-Strandberg syndrome

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Summary

The Pathogenesis of Darier-Grönblad-Strandberg syndrome is discussed in relation to biochemical data of 31 patients with classical features. Specific deviations from normal values were found as to the metabolism as well of collagen as glycosaminoglycans. The corresponding parameters: 1. Collagen-like protein in plasma, free hydroxyproline in plasma, activity of collagen proline hydroxylase in serum and skin, total hydroxyproline in urine, 2. hexuronic acid and hexosamine excretion in the urine, glycosaminoglycan fractions in urine—except the collagen proline hydroxylase activity—were significantly different from the values of corresponding age-matched healthy control persons. Interaction of collagen and glycosaminoglycans is not clear, the primary defect is unknown. Hereditary trait suggests rather an enzyme deficiency than an abnormal gen product.

Zusammenfassung

Pathogenetische Fragen zum Darier-Grönblad-Strandberg-Syndrom werden anhand biochemischer Untersuchungsergebnisse an einem Krankengut von 31 klassischen Fällen diskutiert. Es ergaben sich krankheitsspezifische Abweichungen von der Norm sowohl im Stoffwechsel des Kollagens als auch der Glykosaminoglykane. Die entsprechenden Parameter: 1. Konzentration des „collagen-like protein“ im Plasma, des freien Hydroxyprolins im Plasma, Gesamthydroxyprolinausscheidung mit dem Urin, Aktivität der Kollagenprolinhydroxylase in Serum und Haut, 2. Hexuronsäure-und Hexosaminausscheidung mit dem Urin, Glykosaminoglykanfraktionen im Urin — waren mit Ausnahme der Kollagenprolinhydroxylaseaktivität signifikant von den Meßwerten bei altersentsprechenden Gesunden verschieden. Wieweit sich hierbei Kollagen- und Glykosaminoglykanstoffwechsel gegenseitig beeinflussen, muß vorerst offen bleiben, ebenso die Frage nach dem Primärdefekt. Nach dem Vererbungsmodus ist dieser wahrscheinlicher in einem Enzymmangel als in der Bildung eines abnormen Genprodukts zu vermuten.

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Authors and Affiliations

  1. II. Medizinische Klinik und Poliklinik der Universität Kiel, Germany

    U. Langness, H. W. Kreysel, H. J. Thiel, O. H. Paetzold & U. Gnoyke

  2. Augenklinik der Universität Kiel, Germany

    U. Langness, H. W. Kreysel, H. J. Thiel, O. H. Paetzold & U. Gnoyke

  3. Hautklinik der Universität Kiel, Germany

    U. Langness, H. W. Kreysel, H. J. Thiel, O. H. Paetzold & U. Gnoyke

  4. Hautklinik der Universität Hamburg, Germany

    U. Langness, H. W. Kreysel, H. J. Thiel, O. H. Paetzold & U. Gnoyke

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  1. U. Langness
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  2. H. W. Kreysel
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  3. H. J. Thiel
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  4. O. H. Paetzold
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  5. U. Gnoyke
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Langness, U., Kreysel, H.W., Thiel, H.J. et al. Pathogenetische Fragen zum Darier-Grönblad-Strandberg Syndrom. Klin Wochenschr 52, 185–189 (1974). https://doi.org/10.1007/BF01614395

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