Dataset Information

Fibrous histiocytoma as first presentation in systemic lupus erythematosus and sero-positive Sjogren's syndrome.

ABSTRACT:

Purpose

To describe a triad of fibrous histiocytoma, Systemic Lupus Erythematosus and Sero-positive Sjögren's Syndrome.

Observations

This case was diagnosed first as bilateral fibrous histiocytoma of cheeks, which on further investigations proved to be a triad of Systemic Lupus Erythematosus, Fibrous histiocytoma and Sero-positive Sjögren's Syndrome.

Conclusions and importance

Association between fibrous histiocytoma, Systemic Lupus Erythematosus and Sero-positive Sjögren's Syndrome has been known before, but fibrous histiocytoma as first presentation in the triad has not been reported.

SUBMITTER: Al-Mujaini A

PROVIDER: S-EPMC6076362 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Publications

Fibrous histiocytoma as first presentation in systemic lupus erythematosus and sero-positive Sjögren's syndrome.

Al-Mujaini Abdullah A Shenoy Kashinatha K Wali Upender U

American journal of ophthalmology case reports 20180428

<h4>Purpose</h4>To describe a triad of fibrous histiocytoma, Systemic Lupus Erythematosus and Sero-positive Sjögren's Syndrome.<h4>Observations</h4>This case was diagnosed first as bilateral fibrous histiocytoma of cheeks, which on further investigations proved to be a triad of Systemic Lupus Erythematosus, Fibrous histiocytoma and Sero-positive Sjögren's Syndrome.<h4>Conclusions and importance</h4>Association between fibrous histiocytoma, Systemic Lupus Erythematosus and Sero-positive Sjögren's ...[more]

PMID: 30094396

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Project description:BACKGROUND: The chemokine receptor CCR7 is a key organizer of the immune system. Gene targeting in mice revealed that Ccr7-deficient animals are severely impaired in the induction of central and peripheral tolerance. Due to these defects, Ccr7-deficient mice spontaneously develop multi-organ autoimmunity showing symptoms similar to those observed in humans suffering from connective tissue autoimmune diseases. However, it is unknown whether mutations of CCR7 are linked to autoimmunity in humans. RESULTS: DNA samples were collected from 160 patients suffering from connective tissue autoimmune disease (Sjogren's syndrome, n = 40; systemic lupus erythematosus, SLE, n = 20 and systemic sclerosis, n = 100) and 40 health subjects (n = 40). All participants in this study were of German descent. Samples were screened for single nucleotide polymorphisms (SNP) by sequencing the coding region of the CCR7 gene as well asthe exon flaking intron sites and parts of the regions encoding for the 5'- and 3'-UTR. CCR7 variants were rare. We identified six different sequence variants, which occurred in heterozygosis. The identified SNP were observed at position -60 C/T (observed 1x), +6,476 A/G (7x), +6,555 C/T (15x), +6,560 C/T (6x), +10,440 A/G (3x) and +11,475 C/A (1x). Four of these variants (+6,476 A/G, +6,555 C/T, +6,560 C/T and +10,440 A/G) display allelic frequencies between 1% and 5 % and were present in both patients and control groups. The variants +6,476 A/G, +6,555 C/T, +6,560 C/T are located in the intron 2, while the +10,440 A/G variant corresponds to a silent mutation in exon 3. The variants -60 C/T and +11,475 C/A which are located at the 5'-UTR and 3-UTR respectively, display allelic frequencies below 1%. No correlation between these variants and the autoimmune diseases investigated could be observed. However, reporter gene expression assay demonstrated that the mutation at the -60 C/T position in homozygosis leads to reduced luciferase activity. CONCLUSION: These results suggest that variants of CCR7 gene occur at an extremely low frequency in the German population and that neither Sjogren's syndrome, systemic lupus erythematosus, nor systemic sclerosis are associated with these variants. Nevertheless, the decreased luciferase activity observed in cells transfected with the promoter region bearing the -60 C/T mutation suggests that this CCR7 variant could potentially lead to increased susceptibility to autoimmunity.