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Mixed connective tissue disease in young Saudi patient with recurrent dental abscess: A case report.

ABSTRACT: Mixed connective tissue disease (MCTD) or overlap syndrome is a rare disease. It has overlapping features of more than one autoimmune disease with high titer of anti-ribonucleoprotein antibodies against U1. We present a 12-year-old Saudi male patient who was presented to the dental clinic complaining from non-healing oral ulcers and multiple periapical abscesses that not responsive to extractions and the use of oral antibiotics, these symptoms were accompanied with persistent fever, headache, muscle weakness, general malaise, and painful bilateral cervical lymphadenopathy. After a thorough investigation, he was diagnosed with (MCTD) and was managed dentally and medically accordingly.

SUBMITTER: Faden A

PROVIDER: S-EPMC6257872 | biostudies-other | 2018 Nov-Dec

REPOSITORIES: biostudies-other

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Mixed connective tissue disease in young Saudi patient with recurrent dental abscess: A case report.

Faden Asma'a A Aljamili Alaa A Aljamili Anfal A Alahmari Sumayyah S Asiri Abdulrahman A

International journal of health sciences 20181101 6

Mixed connective tissue disease (MCTD) or overlap syndrome is a rare disease. It has overlapping features of more than one autoimmune disease with high titer of anti-ribonucleoprotein antibodies against U1. We present a 12-year-old Saudi male patient who was presented to the dental clinic complaining from non-healing oral ulcers and multiple periapical abscesses that not responsive to extractions and the use of oral antibiotics, these symptoms were accompanied with persistent fever, headache, mu ...[more]

PMID: 30534045

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Project description:Mixed connective tissue disease (MCTD) is a very rare disorder that belongs in the rare and clinically multifactorial groups of diseases. The pathogenesis of MCTD is still unclear. The best understood epigenetic alteration is DNA methylation whose role is to regulate gene expression. In the literature, there are ever-increasing assumptions that DNA methylation can be one of the possible reasons for the development of Autoimmune Connective Tissue Diseases (ACTDs) such as systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). The aim of this study was to define the global DNA methylation changes between MCTD and other ACTDs patients in whole blood samples. The study included 54 MCTD patients, 43 SSc patients, 45 SLE patients, and 43 healthy donors (HC). The global DNA methylation level was measured by ELISA. Although the global DNA methylation was not significantly different between MCTD and control, we observed that hypomethylation distinguishes the MCTD patients from the SSc and SLE patients. The present analysis revealed a statistically significant difference of global methylation between SLE and MCTD (p < 0.001), SLE and HC (p = 0.008), SSc and MCTD (p ≤ 0.001), and SSc and HC (p < 0.001), but neither between MCTD and HC (p = 0.09) nor SSc and SLE (p = 0.08). The highest % of global methylation (median, IQR) has been observed in the group of patients with SLE [0.73 (0.43, 1.22] and SSc [0,91 (0.59, 1.50)], whereas in the MCTD [0.29 (0.20, 0.54)], patients and healthy subjects [0.51 (0.24, 0.70)] were comparable. In addition, our study provided evidence of different levels of global DNA methylation between the SSc subtypes (p = 0.01). Our study showed that patients with limited SSc had a significantly higher global methylation level when compared to diffuse SSc. Our data has shown that the level of global DNA methylation may not be a good diagnostic marker to distinguish MCTD from other ACTDs. Our research provides the groundwork for a more detailed examination of the significance of global DNA methylation as a distinguishing factor in patients with MCTD compared to other ACTDs patients.

Project description:BackgroundMixed connective tissue disease (MCTD) is a rare condition that is distinguished by the presence of specific U1-RNP antibodies. Information about its etiopathology and diagnostics is still unclear. miRNAs such as miR-146, miR-155, and miR-143 emerged as key regulators of the immune system, known to be involved in the development of autoimmune diseases and cancers. We performed an association study between immune-related miRNAs and MCTD severity and susceptibility.MethodsA total of 169 MCTD patients and 575 healthy subjects were recruited to the case-control study. The miRNA polymorphisms were genotyped using TaqMan SNP genotyping assay. TNF-?, IL-6, and IFN-? levels in serum were determined using ELISA. qRT-PCR of TRAF6, IRAK1, and microRNAs was performed using Taqman miRNA assays and TaqMan Gene Expression Assays.ResultsmiR-146a rs2910164 G allele and GG genotype as well as miR-143 rs713147 A allele were more frequent in healthy subjects than in MCTD patients. miR-146a rs2910164 CC genotype and miR-143 T-rs353299*T-rs353291*T-rs713147*G-rs353298 and C-rs353299*C-rs353291*T-rs713147*A-rs353298 haplotypes were associated with MCTD susceptibility. miR-146a rs2910164 C/T was associated with scleroderma and lymphadenopathy. miR-143 rs353299 C/T was associated with swollen fingers or hands, the presence of enlarged lymph nodes, and pericarditis/pleuritis. miR-143 rs353298 A/G was associated with the occurrence of pericarditis/pleuritis and scleroderma. miR-143 rs353291 T/C showed association with pericarditis/pleuritis. The serum TNF-?, IFN-?, and IL-6 levels were significantly higher in MCTD patients compared to healthy subjects. miR-143 SNPs were associated with higher proinflammatory cytokine concentration in serum only in healthy controls. IRAK1 and TRAF6 expression were higher in the MCTD patients compared to controls.ConclusionsThe results of our case-control study indicate the possible significance of miR-146a and miR-143/145 in the susceptibility and clinical picture of MCTD.

Dataset Information

Mixed connective tissue disease in young Saudi patient with recurrent dental abscess: A case report.

Publications

Mixed connective tissue disease in young Saudi patient with recurrent dental abscess: A case report.

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