Topical proline therapy in prolidase deficiency

Prolidase deficiency is a very rare autosomal recessive disorder characterized by recurrent chronic cutaneous ulcers that are recalcitrant to healing, with characteristic facies, splenomegaly and mental retardation. Prolidase deficiency results from mutation of the human prolidase gene peptidase D (PEPD) on chromosome 19q12-q13.2. There is a paucity of reports in prolidase deficiency and its treatment. We report a unique case of prolidase deficiency in a patient with recurrent chronic cutaneous ulcers over both lower legs, which were successfully treated with topical proline application under occlusion. Topical proline is a cheap and effective treatment for cutaneous ulcers in prolidase deficiency. A 44-year-old woman presented with numerous, chronic painful ulcers over her right lower leg and both feet, which had been present since childhood. The ulcers were recurrent in nature and partially resolved with topical medication. The patient had five siblings, and none of themhad similar symptoms.Thepatient also reporteda2yearhistoryof recurrenteardischarge fromthe left ear. Physical examination revealed multiple, well-defined ulcers ranging in size from 10 to 20 mm with sloping edges and yellowish crusting over the anterior and posterior aspect of the right leg and the dorsa of both feet (Fig. 1a). The ulcers were associated with discolouration of the surrounding skin and swelling of the feet. Similar ulcers were also seen over the sole of the right foot and medial aspect of the left heel. There was also diffuse post-inflammatory hyperpigmentation with areas of atrophic scarring over both lower legs and both feet. The patient also had dysmorphic facies in the form of hypertelorism, low-set ears and lip swelling. Her intelligence quotient was 66 on the Binetkamal test. Complete haemogram revealed hypochromic microcytic anaemia. Serology tests for antinuclear antibodies, double-stranded DNA, C-reactive protein and rheumatoid factor were negative. Routine urinalysis showed overt albuminuria, while fasting and postprandial blood