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Clinical Dermatology

Prolidase deficiency: a rare cause of lower leg ulceration

Case-Based review, 101 - 104
doi: 10.11138/cderm/2016.4.3.101
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Abstract
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Prolidase deficiency is a rare, autosomal recessive genodermatosis with features including skin ulceration, intellectual impairment, characteristic facies, skeletal deformities, splenomegaly, hepatomegaly, haematological abnormalities and chronic infections.
Deficiency of prolidase leads to increased urinary excretion of glycylproline and other dipeptides containing proline, causing delay in wound healing via impaired collagen synthesis. We report a 61-year-old female with a 4-year history of painful, recalcitrant lower leg ulceration. Add itionally she had characteristic facies and haematological abnormalities described in other reported cases of prolidase deficiency. A spot urine test for imidodipeptiduria and subsequent prolidase (PEPD) genotyping confirmed the diagnosis. This condition should be considered in any severe prolonged case of skin ulceration that is unresponsive to therapy, and is diagnostically atypical.

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