Hereditary prolidase deficiency - one cause of therapy-resistant leg ulcers

Leg ulcers may be caused by many different diseases. Most frequently, they are due to vasculopathies, to a lesser extent to metabolic, neuropathic or hematologic diseases. Neoplasms, connective tissue diseases, infections,tra uma,and panniculitis should also be included in the differential diagnosis. A 38-year-old Caucasian female patient with hereditary prolidase deficiency developed progressive and very painful leg ulcers. The ulcers first appear ed in childhood and did not respond to various treatments. Additional featu res of prolidase deficiency included mental retardation, short stature, ext ensive dental caries, and multiple malar teleangiectases. Hereditary prolid ase deficiency is a very rare autosomal recessive disease. It is caused by heterogeneous mutations of the prolidase gene and affects many aspects of p rotein merabolism. Ion exchange chromatography and high voltage electrophor esis of urine can prove the suspected diagnosis. So far,there is no efficie nt therapy for hereditary prolidase deficiency. All reported treatment atte mpts have ended in failure.