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RESEARCH PRODUCT
Prolidase deficiency in two dermatological patients in western Sicily
Maria Rita BongiornoSalvatrice CurialeGiuseppe Pistonesubject
Adult030203 arthritis & rheumatologyProlidase deficiencyCollagen degradationbusiness.industryDermatologyClinical manifestationmedicine.disease030207 dermatology & venereal diseases03 medical and health sciencesFacial appearanceChronic skin ulcers0302 clinical medicineImmunologymedicineHumansFemaleProlidase deficiency ulcersProlidase DeficiencyIminodipeptiduriabusinessSicilydescription
Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of the disorder are iminodipeptiduria, chronic skin ulcers, recurring infections, mental retardation and characteristic facial appearance, although prolidase deficiency can occur with no clinical manifestation. The primary biological function of the enzyme involves the metabolism of collagen degradation products and the recycling of proline for collagen resynthesis. We describe two patients with prolidase deficiency and review the different clinical manifestations suggesting the pathogenetic mechanism through few hypotheses.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-05-01 | Giornale Italiano di Dermatologia e Venereologia |