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  • Title: Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects.
    Author: Leoni A, Cetta G, Tenni R, Pasquali-Ronchetti I, Bertolini F, Guerra D, Dyne K, Castellani A.
    Journal: Arch Dermatol; 1987 Apr; 123(4):493-9. PubMed ID: 3827281.
    Abstract:
    Prolidase deficiency occurred in two sisters suffering from recurrent leg ulcers that appeared in early childhood. The patients presented the typical clinical symptoms of the disease, including characteristic facies, dermatologic manifestations of the lower extremities, splenomegaly, and hematologic anomalies. Large amounts of iminodipeptides were excreted into the urine, and prolidase activity in their erythrocytes was virtually absent. Changes associated with a connective-tissue disorder were demonstrated by light and electron microscopic studies of the patients' apparently normal skin. Collagen fibers were smaller than in controls and were irregularly packed; the fibrils had normal aspect but were significantly smaller than in one age-matched control. Elastin fibers appeared altered both in size and structure.
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