Literature DB >> 26637345

A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency.

Esra Adışen1, Funda Bapur Erduran2, Fatih Süheyl Ezgü1, Çiğdem Seher Kasapkara1, Roberta Besio3, Antonella Forlino3, Mehmet Ali Gürer1.   

Abstract

Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections. This study describes 4 patients with recurrent leg ulcerations and abnormal facies who were first clinically suspected of prolidase deficiency and then biochemically confirmed. Two siblings and 2 other patients were admitted to our clinic at different times, and they had some common features such as chronic leg and foot ulcers recalcitrant to treatment, consanguineous parents, facial dysmorphism, mental retardation, and widespread telangiectasias. Physical examination and detection of low prolidase level in blood finally led us to the diagnose of ulcers secondary to prolidase deficiency. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of recurrent leg and foot ulcers that develop at an early age.
© The Author(s) 2015.

Entities:  

Keywords:  extremity ulcers; prolidase deficiency; recalcitrant; telangiectasias

Mesh:

Year:  2015        PMID: 26637345     DOI: 10.1177/1534734615619550

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


  2 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.  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

  2 in total

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