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Mutations in IL36RN are associated with geographic tongue.

ABSTRACT: Geographic tongue (GT) is a benign inflammatory disorder of unknown etiology. Epidemiology and histopathology in previous studies found that generalized pustular psoriasis (GPP) is a factor associated with GT, but the molecular mechanism remains obscure. To investigate the mechanism of GT, with and without GPP, three cohorts were recruited to conduct genotyping of IL36RN, which is the causative gene of GPP. In a family spanning three generations and diagnosed with only GT ("GT alone"), GT was caused by the c.115+6T>C/p.Arg10ArgfsX1 mutation in the IL36RN gene. An autosomal dominant inheritance pattern with incomplete penetrance was observed. In the cohort consisting of sporadic cases of "GT alone" (n = 48), significant associations between GT and three IL36RN variants (c.115+6T>C/p.Arg10ArgfsX1, c.169G>A/p.Val57Ile and c.29G>A/p.Arg10Gln) were shown. In the GPP patient cohort (n = 56) and GPP family member cohort (n = 67), a significant association between the c.115+6T>C mutation and the simultaneous presence of GPP and GT was observed when compared to the presence of GPP without GT (P < 0.05). Biopsies revealed similarities among GT patients with different genotypes (AA, Aa and aa), with the neutrophils prominently infiltrating the epidermis. Western-blot analysis showed that the expression ratio of IL-36Ra/IL-36? in lesioned tongues with individuals harboring different genotypes (AA, Aa and aa, n = 3, respectively) decreased significantly compared to controls (n = 3). We describe the mechanism of GT for the first time: some cases of GT are caused by IL36RN mutations, while those lacking mutations are associated with an imbalance in expression between IL-36Ra and IL-36? proteins in tongue tissue.

SUBMITTER: Liang J

PROVIDER: S-EPMC5258799 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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Mutations in IL36RN are associated with geographic tongue.

Liang Jianying J Huang Peichen P Li Huaguo H Zhang Jia J Ni Cheng C Wang Yirong Y Shen Jinwen J Li Chunxiao C Kang Lu L Chen Jie J Zhang Hui H Wang Zhen Z Zhang Zhen Z Li Ming M Yao Zhirong Z

Human genetics 20161129 2

Geographic tongue (GT) is a benign inflammatory disorder of unknown etiology. Epidemiology and histopathology in previous studies found that generalized pustular psoriasis (GPP) is a factor associated with GT, but the molecular mechanism remains obscure. To investigate the mechanism of GT, with and without GPP, three cohorts were recruited to conduct genotyping of IL36RN, which is the causative gene of GPP. In a family spanning three generations and diagnosed with only GT ("GT alone"), GT was ca ...[more]

PMID: 27900482

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Project description:Background Geographic tongue and fissured tongue are both common oral mucous membrane diseases relatively. The treatment of this disease is typically causative therapy because of the unknown etiology, and other afflictions. Gastrointestinal disease is one of the factors that induce geographic tongue with a fissured tongue. As an adjuvant drug that can inhibit the growth of Helicobacter pylori, the most common pathogen of chronic gastritis, Lactobacillus is widely used in clinic. However, there are seldom studies about Lactobacillus used in the treatment of geographic tongue and fissured tongue. Therefore, this case we used typically causative therapy with Lactobacillus as adjuvant to treat patient with a geographic tongue and fissured tongue with gastrointestinal disease and explore the effectiveness for further application. Case Description A 33-year-old female patient presented with a geographic tongue and fissured tongue with dysgeusia. At the first visit, there were smooth red lesions on the back of the tongue with the hyperplasia of the surrounding filiform papilla. The cracks in the middle of the tongue had a crack of about 2.5 cm long and 0.8 cm deep, and 5–6 light cracks on the tip of the tongue. The patient reported a history of chronic gastritis for 1 year, often with soft stool and gastroesophageal reflux disease. We administered drug treatment, including sodium bicarbonate tablets, Kangfuxin solution, compound chlorhexidine solution, and stomatitis spray. In addition, we suggested the patient use a yogurt machine to make and drink fresh yogurt with Lactobacillus as adjuvant everyday day and suggested a daily regimen of a light diet with no stimulating food, regular work, and sufficient rest. Ten days after the first visit, the symptoms were obviously alleviated. Twenty days after the initial diagnosis, the geographic tongue lesions had disappeared and the cracks had basically healed. The patient reported that the gastric symptoms had improved, and there was no soft stool or stomach discomfort. Conclusions This study used Lactobacillus as the adjuvant with typically causative therapy in the treatment of geographic tongue and fissured tongue.

Project description:Geographic tongue (GT) is a chronic condition of unknown aetiology, with no defined parameters to establish the protocol for evidence-based management. Validation of a newly developed and proposed clinical index to assess the severity of GT could assist in its diagnosis, especially in cases associated with systemic dermatological diseases in the form of psoriasis. To verify the applicability of the geographic tongue area and severity index (GTASI). This involved healthcare professionals from different specialties to evaluate the usefulness of the GTASI in supporting GT classification, as well as the follow-up process. One hundred cases of previously diagnosed GT were initially evaluated by three independent, experienced researchers/clinicians to obtain a standardised classification baseline. Subsequently, nine cases of GT were selected, three cases for each category-mild, moderate and severe. These stages were professionally evaluated by 51 healthcare professionals from three groups: 17 dentists (33%), 22 oral medicine specialists (43%) and 12 specialist dermatologists (24%) during a cross-sectional survey. The quantitative and qualitative assessment based on experts' opinions in the cross-sectional survey demonstrated an acceptable, similar level of GT clinical diagnosis (p > 0.05), with coherence between the various groups of professionals critically appraising the GTASI. An apparent divergence was observed for the moderate GT category, as well as in the group of less experienced evaluators. Whilst the validation of GTASI applicability was successfully executed, the general dental practitioners, specialists in oral medicine and dermatologists were equally capable of correct GT diagnosis and appropriately rating its severity. These coherent results were especially replicated among the experienced clinicians. The validation of the newly proposed index confirmed its reliability as a feasible instrument in oral medicine, with the prospect of its wider implementation in clinical practice.

Project description:BackgroundThe detection of mutations in the gyrA and gyrB genes in the Mycobacterium tuberculosis genome that have been demonstrated to confer phenotypic resistance to fluoroquinolones is the most promising technology for rapid diagnosis of fluoroquinolone resistance.MethodsIn order to characterize the diversity and frequency of gyrA and gyrB mutations and to describe the global distribution of these mutations, we conducted a systematic review, from May 1996 to April 2013, of all published studies evaluating Mycobacterium tuberculosis mutations associated with resistance to fluoroquinolones. The overall goal of the study was to determine the potential utility and reliability of these mutations as diagnostic markers to detect phenotypic fluoroquinolone resistance in Mycobacterium tuberculosis and to describe their geographic distribution.ResultsForty-six studies, covering four continents and 18 countries, provided mutation data for 3,846 unique clinical isolates with phenotypic resistance profiles to fluoroquinolones. The gyrA mutations occurring most frequently in fluoroquinolone-resistant isolates, ranged from 21-32% for D94G and 13-20% for A90V, by drug. Eighty seven percent of all strains that were phenotypically resistant to moxifloxacin and 83% of ofloxacin resistant isolates contained mutations in gyrA. Additionally we found that 83% and 80% of moxifloxacin and ofloxacin resistant strains respectively, were observed to have mutations in the gyrA codons interrogated by the existing MTBDRsl line probe assay. In China and Russia, 83% and 84% of fluoroquinolone resistant strains respectively, were observed to have gyrA mutations in the gene regions covered by the MTBDRsl assay.ConclusionsMolecular diagnostics, specifically the Genotype MTBDRsl assay, focusing on codons 88-94 should have moderate to high sensitivity in most countries. While we did observe geographic differences in the frequencies of single gyrA mutations across countries, molecular diagnostics based on detection of all gyrA mutations demonstrated to confer resistance should have broad and global utility.

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Mutations in IL36RN are associated with geographic tongue.

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Mutations in IL36RN are associated with geographic tongue.

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