Literature DB >> 25691319

A case of prolidase deficiency accompanying leg ulcers.

Berna Solak1, Rabia Oztas Kara2, Teoman Erdem3, Tuba Muftuoglu4.   

Abstract

Prolidase deficiency (PD) is a rare autosomal recessive disorder that has symptoms such as skin ulcers, characteristic facies, mental retardation, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections. Deficiency of prolidase leads to the increased excretion of proline in urine, which causes impaired collagen synthesis and delay in wound healing. This case reports a 40-year-old female who has had cutaneous ulcers since the age of 7 years. We also recognized borderline intellectual functioning as well as hematologic abnormalities and splenomegaly. We present this rare case to draw attention to consider prolidase deficiency in the differential diagnosis of leg ulcers.
© The Author(s) 2015.

Entities:  

Keywords:  hydrocolloid gel; leg ulcer; prolidase deficiency

Mesh:

Substances:

Year:  2015        PMID: 25691319     DOI: 10.1177/1534734615570360

Source DB:  PubMed          Journal:  Int J Low Extrem Wounds        ISSN: 1534-7346            Impact factor:   2.057


  4 in total

1.  A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene.

Authors:  Esra Kiratli Nalbant; Nermin Karaosmanoglu; Omer Kutlu; Serdar Ceylaner; Hatice Meral Eksioglu
Journal:  JAAD Case Rep       Date:  2019-05-07

2.  Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.

Authors:  Nora Alrumayyan; Drew Slauenwhite; Sarah M McAlpine; Sarah Roberts; Thomas B Issekutz; Adam M Huber; Zaiping Liu; Beata Derfalvi
Journal:  Allergy Asthma Clin Immunol       Date:  2022-02-23       Impact factor: 3.406

3.  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Authors:  Francis Rossignol; Marvid S Duarte Moreno; Carlos R Ferreira; Manuel Schiff; Jean-François Benoist; Manfred Boehm; Emmanuelle Bourrat; Aline Cano; Brigitte Chabrol; Claudine Cosson; José Luís Dapena Díaz; Arthur D'Harlingue; David Dimmock; Alexandra F Freeman; María Tallón García; Cheryl Garganta; Tobias Goerge; Sara S Halbach; Jan de Laffolie; Christina T Lam; Ludovic Martin; Esmeralda Martins; Andrea Meinhardt; Isabelle Melki; Amanda K Ombrello; Noémie Pérez; Dulce Quelhas; Anna Scott; Anne M Slavotinek; Ana Rita Soares; Sarah L Stein; Kira Süßmuth; Jenny Thies
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822

4.  Prolidase Enzyme Activity in Conjunctiva and Pterygium Tissues.

Authors:  Yıldıray Yıldırım; Abdullah Kaya; Taner Kar; Tuba Muftuoglu; Ali Ayata
Journal:  Med Sci Monit       Date:  2015-10-28
  4 in total

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