Sequential and combined treatment of prolidase deficiency leg ulcers

Background The Authors report a case of chronic cutaneous lesions in a patient affected by prolidase deficiency, a rare disorder inherited through an autosomal recessive gene (50 cases reported ). The enzyme prolidase is widely distributed throughout the body and it is important in the recycling of proline and hydroxyproline. Among the clinical presentations, the most striking manifestation is the skin fragility with leg ulceration (see Table ​Table11) Table 1 Clinical signs of prolidase deficiency The deficiency of the enzyme prolidase is responsible for massive loss of proline in the urine which is estimated to be as high as 3 g/die. The diagnosis is ascertained by iminopeptiduria greater than 5 mmol/24h. A characteristic feature is absolute resistance to all forms of treatment including rejection of skin grafts.