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. 2012 Jun 22;10(1):18.
doi: 10.1186/1546-0096-10-18.

Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review

Yonatan Butbul Aviel  1 , Hana Mandel, Emily Avitan Hersh, Reuven Bergman, Orly Eshach Adiv, Anthony Luder, Riva Brik
Affiliations

Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review

Yonatan Butbul Aviel et al. Pediatr Rheumatol Online J. .

Abstract

Introduction: Prolidase deficiency (PD) is a rare autosomal recessive disorder which may have a wide spectrum of clinical features. These features include a characteristic facies, cognitive impairment, rashes or skin ulceration, splenomegaly, recurrent infections involving mainly the respiratory system, and iminodipeptiduria. The disorder is caused by a mutation in the PEPD gene.

Objective: To describe a cohort of unrelated PD patients from Northern Israel whose inborn error of metabolism was associated with systemic lupus erythematosus (SLE) and to identify in the medical literature all PD cases mimicked by and/or associated with SLE.

Methods: Three patients with PD associated with SLE were clinically, biochemically and genetically investigated. These patients were from 3 unrelated consanguineous families residing in Northern Israel. A computer-assisted (PubMed) search of the medical literature from 1975 to 2011 was performed using the following key words: Prolidase deficiency, SLE, and systemic lupus erythematosus.

Results: An association between PD and SLE was found in 10 PD patients. These 10 patients included three from our cohort of 23 PD patients, and seven out of just under 70 PD patients previously reported in the literature.

Conclusion: The present findings underscore the relatively high incidence of the association between SLE and PD, suggesting that this association may not be coincidental. The phenotypic similarities between SLE and PD might suggest that the PEPD gene constitutes a modifier gene or a genetic risk factor in the causation of SLE.

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Figures

Figure 1
Figure 1
Clinical and histopathological findings of patient 1: a: well demarcated edematous plaques on the dorsal side of the fingers. b: scaly plaques with central atrophy on both earlobes clinically compatible with Discoid Lupus Erythematosus.
Figure 2
Figure 2
Histopathology of the involved skin from the dorsal aspects of a finger showing typical changes of cutaneous Lupus Erythematosus including vacuolar degeneration of the basal- cell layer, and focal thickening of the basement membrane (hematoxylin and eosin, x100).
Figure 3
Figure 3
Patient no. 2 depicting the characteristic facial dysmorphism of PD.
Figure 4
Figure 4
Patient no. 3 with milder dysmorphic features.
See this image and copyright information in PMC

References

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