This study emphasizes the wider genetic landscape of FLG-null mutations in Asia that is slowly emerging.

Sebum production is thought to play a major role in acne vulgaris in adolescents. Psychological stress may exacerbate acne; however, it is not known whether the perceived association between stress and acne exacerbation is due to increased sebum production. The aims of this study were to determine: (i) if psychological stress in adolescents is associated with increased sebum production; and (ii) if stress is associated with increased acne severity independent of, or in conjunction with, increased sebum production. Ninety-four secondary school students in Singapore (mean age 14.9 years) were enrolled in this prospective cohort study. During a high stress condition (prior to mid-year examinations) and a low stress condition (during the summer holidays), the following were evaluated: (i) self-reported stress level using the Perceived Stress Scale; (ii) sebum level at baseline and at 1 h; and (iii) acne severity. The prevalence of self-reported acne in this study population was high (95% in males and 92% in females). Most subjects had mild to moderate acne. Sebum measurements did not differ significantly between the high stress and low stress conditions. For the study population as a whole, we observed a statistically significant positive correlation (r=0.23, p=0.029) between stress levels and severity of acne papulopustulosa. In adolescents, psychological stress does not appear to affect the quantity of sebum production. The study suggests a significant association between stress and severity of acne papulopustulosa, especially in males. Increased acne severity associated with stress may result from factors other than sebum quantity.

This study highlights a novel association between FLG-null mutations and an increased susceptibility to recurrent bacterial skin infection among patients with AD.

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The case records of 23 patients with classic eosinophilic pustular folliculitis (EPF), or Ofuji's disease, seen at the National Skin Centre in Singapore, from 1990 to 2001 were reviewed. All patients had clinical and histopathological findings consistent with EPF. There were eight men and 15 women (ratio 1:1.6). The mean age at presentation was 35 years. There was a marked predilection for Chinese patients (87%), with a racial distribution of 20:2:1 of Chinese, Malay and Indian patients, respectively. The most frequent site of occurrence was the face, particularly over both cheeks. The majority of patients (90%) treated with oral indomethacin had a good response within 2-4 weeks. Relapses were frequent in 82.6% of patients and maintenance with indomethacin or ketoprofen was beneficial. Eosinophilic pustular folliculitis is a rare but important disease entity presenting with recurrent indurated erythematous papulopustules and plaques on the face. Increased awareness of this condition is important as it can mimic many other conditions presenting as red plaques on the face.

The prevalence of S. aureus colonization was high among patients with AD and their close contacts. However, no predominant isolate of S. aureus was found to be associated with AD. The presence of superantigen B is possibly associated with moderate rather than severe disease in our population.

BackgroundExpression quantitative trait loci (eQTL) databases represent a valuable resource to link disease-associated SNPs to specific candidate genes whose gene expression is significantly modulated by the SNP under investigation. We previously identified signal inhibitory receptor on leukocytes-1 (SIRL-1) as a powerful regulator of human innate immune cell function. While it is constitutively high expressed on neutrophils, on monocytes the SIRL-1 surface expression varies strongly between individuals. The underlying mechanism of regulation, its genetic control as well as potential clinical implications had not been explored yet.MethodsWhole blood eQTL data of a Chinese cohort was used to identify SNPs regulating the expression of VSTM1, the gene encoding SIRL-1. The genotype effect was validated by flow cytometry (cell surface expression), correlated with electrophoretic mobility shift assay (EMSA), chromatin immunoprecipitation (ChIP) and bisulfite sequencing (C-methylation) and its functional impact studied the inhibition of reactive oxygen species (ROS).ResultsWe found a significant association of a single CpG-SNP, rs612529T/C, located in the promoter of VSTM1. Through flow cytometry analysis we confirmed that primarily in the monocytes the protein level of SIRL-1 is strongly associated with genotype of this SNP. In monocytes, the T allele of this SNP facilitates binding of the transcription factors YY1 and PU.1, of which the latter has been recently shown to act as docking site for modifiers of DNA methylation. In line with this notion rs612529T associates with a complete demethylation of the VSTM1 promoter correlating with the allele-specific upregulation of SIRL-1 expression. In monocytes, this upregulation strongly impacts the IgA-induced production of ROS by these cells. Through targeted association analysis we found a significant Meta P value of 1.14 × 10–6 for rs612529 for association to atopic dermatitis (AD).ConclusionLow expression of SIRL-1 on monocytes is associated with an increased risk for the manifestation of an inflammatory skin disease. It thus underlines the role of both the cell subset and this inhibitory immune receptor in maintaining immune homeostasis in the skin. Notably, the genetic regulation is achieved by a single CpG-SNP, which controls the overall methylation state of the promoter gene segment.Electronic supplementary materialThe online version of this article (doi:10.1186/s13073-017-0404-6) contains supplementary material, which is available to authorized users.

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