Prolidase deficiency is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, mental retardation, unusual facial appearance, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections. The most typical finding is chronic, recurrent leg ulcers appearing in early childhood. Prolidase (peptidase-D) is necessary for collagen biosynthesis and its deficiency leads to impairment in connective tissue of the skin, capillaries, and lymphatic vessels. We report a 33-year-old woman who had a 15-year history of nonhealing ulcer on left pretibial region accompanied by splenomegaly, hypochromic microcytic anemia, and thrombocytopenia. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of leg ulcers that develop at an early age.
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Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Turk Arch Pediatr
January 2025
Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.
Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.
View Article and Find Full Text PDFA rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.
Immunol Res
December 2024
Division of Pediatric Genetics, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Izmir, Turkey.
We report a pediatric patient with prolidase deficiency, caused by a mutation in the PEPD gene, which encodes the enzyme prolidase D, with a lupus-like clinic and marked dysmorphic features along with pulmonary, neurological, skeletal, and immune system involvement. In addition to being the first known case in the literature where Friedrich's ataxia and prolidase deficiency were observed together, we aimed to highlight that this diagnosis should be considered in patients with autoimmunity and additional systemic findings such as treatment-resistant skin lesions, intellectual disability, and pulmonary manifestations. Furthermore, we sought to compare this case with others documented in the literature.
View Article and Find Full Text PDFFurther Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.
Mol Syndromol
August 2024
Genetic Diseases Evaluation Center, Konya City Hospital, Konya, Turkey.
Introduction: Prolidase deficiency is a rare multisystemic disease associated with collagen metabolism. Clinical manifestations and age of onset are highly variable. Prolidase deficiency is caused by homozygous variants in the gene.
View Article and Find Full Text PDFTargeting prolidase. A survey of the literature data to depict a structure-activity relationship frame and to address future studies for drug development.
Bioorg Med Chem
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Dipartimento di Farmacia, Università "Gabriele d'Annunzio" Chieti - Pescara, Via dei Vestini 31, 66100 Chieti Scalo (CH), Italy. Electronic address:
Prolidase (EC.3.4.
View Article and Find Full Text PDFMultiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency-The Specificity of Treatment and Care: A Case Report.
Medicina (Kaunas)
June 2024
Department of Clinical Nursing, Faculty of Health Sciences, Jagiellonian University-Medical College, 31-501 Kraków, Poland.
: Prolidase deficiency (PD) is a rare, life-threatening, genetically determined disease with an incidence of 1-2 cases per 1 million births. The disease inhibits collagen synthesis, which leads to organ and systems failure, including hepato- and splenomegaly, immune disorders, chronic ulcerative wounds, respiratory infections, and pulmonary fibrosis. The complexity of the problems associated with this disease necessitates a comprehensive approach and the involvement of an interdisciplinary team.
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