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A 31-year-old man presented to our attention showing infected ulcerative lesions with pseudoepitheliomatous hyperplasia of legs and feet, which rendered him unable to walk or to even stand. At the age of 8, he had been diagnosed with prolidase deficiency disorder, based on high levels of imidodipeptiduria and reduced enzymatic activity of erythrocytic prolidase.
At the time of hospitalisation, the patient presented diffuse lower limbs lymphedema, with sock-shaped ulcerative-hyperplastic areas, involving the medial and distal third of legs and feet. Such lesions were exudative and variably deep, showed irregular edges, increased tissue consistency and hyperplastic surrounding skin (figures 1 and 2). To confirm the diagnosis, genetic analysis and prolidase enzymatic activity assay were performed, showing homozygosis for the (c.1342G>A (p. Gly488Arg)) mutation, and a non-determinable prolidase activity in cutaneous fibroblasts. Multiple microbiological examinations from cutaneous swabs turned out to be constantly positive for Pseudomonas aeruginosa, occasionally positive …
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