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Prolidase deficiency is a rare autosomal recessive disorder described for the first time by Goodman in 1968 . It is caused by a mutation of the PEPD gene on chromosome 19q12-q13.2. Prolidase is a ubiquitous metalloenzyme involved in the catabolism of foods and endogenous proteins, especially imino acid-rich proteins such as collagen.
The clinical presentation varies from an asymptomatic form to variable constellation of symptoms including recurrent infections, chronic leg ulcers and splenomegaly. The symptoms emerge at birth or in the first two decades of life. The ulcers are a classic cutaneous sign. They have ragged borders and are very slow to heal. They tend to be located on the lower limbs but genital ulcers have also been described. The other cutaneous manifestations include skin fragility on the lower limbs and genitals, atrophic scars, eczema-like lesions, necrotic papules, telangiectasias, ankle and elbow hyperkeratosis, purpuric lesions, poliosis, canities, lymphoedema, photosensitivity and impetigo.
Patients generally present with characteristic facial features including hypertelorism, saddle nose deformity, frontal bossing, micrognathia, mandibular protrusion, low hairline and exophthalmia. Other signs such as a protuberant abdomen, joint laxity, short stature, deafness, osteoporosis, ogival palate, erosive cystitis, mental retardation and recurrent infections such as sinusitis and otitis media and upper respiratory infections have also been described. Combination with lupus has also been reported [2,3].
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