Systemic lupus erythematosus in a patient with Turner syndrome

Bai, Juan; Qiao, Jianjun; Wu, Yinhua; Zhao, Zhengyan; Fang, Hong

doi:10.1590/abd1806-4841.20154066

Cited by 11 publications

(4 citation statements)

References 5 publications

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“…It is possible that systemic diseases, which are routinely diagnosed describes a female patient with Turner's syndrome and who had been later diagnosed with SLE, although she presented characteristics such as bilateral facial erythema, nummular dermatitis, purple erythema on the back of the hand, and light sensibility about 10 years before. 27 In the present case report, we have emphasized the importance of dental clinical examination for oral manifestations in the diagnosis of systemic diseases.…”

Section: Discussionmentioning

confidence: 77%

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An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome

Tenório

Figueiredo

Espindula

et al. 2018

Special Care in Dentistry

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Moebius' syndrome (MS) is characterized by a nonprogressive facial palsy associated with impairment in eye abduction, which can be uni- or bilateral. Some authors raise the possibility that patients with MS may suffer from social stigmatism due to their facial dysmorphism and that constant teasing and bullying perpetrated by people in the same social circle are adjuvants in the development of low self-esteem, behavioral problems, and even psychiatric disorders. Psychological stress, anxiety, and depression are factors contributing to both development and impairment of autoimmune diseases, such as systemic lupus erythematosus (SLE). The objective of this work is to report the case of a patient with MS who developed SLE. In the present case report, we have emphasized the importance of both clinical dental examination and surgeon-dentist in the early diagnosis of systemic diseases by considering that these conditions can affect both syndromic and normoreactive patients.

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Section: Discussionmentioning

confidence: 77%

“…The case reported by Bai et al. describes a female patient with Turner's syndrome and who had been later diagnosed with SLE, although she presented characteristics such as bilateral facial erythema, nummular dermatitis, purple erythema on the back of the hand, and light sensibility about 10 years before …”

Section: Discussionmentioning

confidence: 99%

An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome

Tenório

Figueiredo

Espindula

et al. 2018

Special Care in Dentistry

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“…The association of SLE and Turner's syndrome is extremely rare; before this, only four other cases have been reported. [7][8][9][10]…”

Section: Discussionmentioning

confidence: 99%

An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis

Minzala

Ismail

2016

Lupus

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Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome.

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“…Interestingly, males with an additional X chromosome have a risk of developing SLE that is approximately 14 times higher than XY males. Conversely, females with only one X chromosome and SLE are very rare [ 11 – 14 ]. Rs3853839 (located within the 3′UTR of TLR7 ) has been found to be strongly associated with SLE in Asian populations [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

X-linked TLR7 gene polymorphisms are associated with diverse immunological conditions but not with discoid lupus erythematosus in Polish patients

Skonieczna

Woźniacka

Czajkowski

et al. 2018

pdia

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IntroductionToll-like receptor 7 (TLR7) is an important molecule involved in the development of autoimmunity and the response to different pathogens. Several polymorphisms within the TLR7 gene were previously found to be associated with systemic lupus erythematosus (SLE). However, none of those studies investigated the TLR7 promoter flanking variants rs1634318 and rs1616583. TLR7 gene diversity has not been analyzed with respect to discoid lupus erythematosus (DLE) development, while its role in the human immunological response to fungal infection is not fully known.AimTo clarify the potential involvement of two novel single-nucleotide polymorphisms (SNPs) located in the TLR7 gene (rs1634318 and rs1616583) in a variety of immune-related conditions, we studied the variability of these loci in patients from a Polish population with SLE and DLE, as well as in immunocompromised patients who were affected by invasive aspergillosis (IA) and those who were not affected.Material and methodsReal-time polymerase chain reaction was used to genotype SNPs. Statistically significant differences between case and control groups for both allele and genotype frequencies were assessed using the χ2 test with Yates’ correction or two-tailed Fisher’s exact test. The results were Bonferroni-corrected for multiple comparisons and odds ratios were calculated.ResultsTwo polymorphisms located in TLR7 might be associated with the development of SLE but not DLE within the Polish population. Moreover, variation of the two investigated SNPs was found to be associated with IA in immunocompromised Polish patients.ConclusionsIn Polish patients, TLR7 promoter flanking gene polymorphisms might be associated with IA and SLE but not DLE.

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Systemic lupus erythematosus in a patient with Turner syndrome

Cited by 11 publications

References 5 publications

An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome

An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome

An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis

X-linked TLR7 gene polymorphisms are associated with diverse immunological conditions but not with discoid lupus erythematosus in Polish patients

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