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Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency

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Summary

Two cases of prolidase deficiency in two siblings are presented. The patients complained of the typical clinical symptoms of the disease, including chronic leg ulcerations resembling vasculitis. They were mentally retarded, had typical facial characteristics, splenomegaly, and haematologic anomalies. Biochemical and morphological investigations confirmed the diagnosis. In these cases, alterations of the peripheral nervous system and decreased IgA levels were demonstrated for the first time.

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References

  1. Scriver, O.R., Smith, R.J., Phang, J.M. Disorders of proline and hydroxyproline metabolism. In: The Metabolic Basis of Inherited Disease. Ed.: Stanbury, J.B., Wyngaarden, J.B., Fredrickson, D.S., et al. New York, Mc Graw-Hill International Book Co, 1983, 375–377.

    Google Scholar 

  2. Tanoue, A., Endo, F., Akaboshi, I., Oono, T., Arata, J., Matsuda, I. Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. J Clin Invest, 1991, 87, 1171–1176.

    PubMed  Google Scholar 

  3. Der Kaloustian, V.M., Freij, B.J., Kurban, A.K. Prolidase deficiency: An inborn error of metabolism with major dermatological manifestations. Dermatologica, 1982, 164, 293–304.

    PubMed  Google Scholar 

  4. Wysocki, S.J., Hahnel, R., Mahoney, T., Wilson, R.G., Panegyres, Pk. Prolidase deficiency: A patient without hydroxyproline — containing iminodipeptides in urine. J Inher Metab Dis 1988, 11, 161–165.

    Article  Google Scholar 

  5. Lemieux, B., Auray-Blasis, C., Gignere, R., Shapcott, D.J. Prolidase deficiency: Detection of cases by a newborn urinary screening programme. Inher Metab Dis, 1984, suppl 7, 2, 145–146.

    Google Scholar 

  6. Jackon, S.H., Demis, A.W., Greenberg, M. Iminodipeptiduria: A genetic defect in recycling collagen: A method for determining prolidase in erythrocytes. Can Med Assoc J, 1975, 113, 759–763.

    PubMed  Google Scholar 

  7. Myara, I., Charpentier, C., Lemonier, A. Prolidase and prolidase deficiency, Life Sci, 1984, 34, 1985–1988.

    Article  PubMed  Google Scholar 

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Cantatore, F.P., Papadia, F., Giannico, G. et al. Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency. Clin Rheumatol 12, 410–414 (1993). https://doi.org/10.1007/BF02231590

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  • DOI: https://doi.org/10.1007/BF02231590

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