Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.

Background Filaggrin (FLG) gene encoding the protein filaggrin plays an important role in barrier function of the skin and its alteration is a predisposing factor for atopic dermatitis. FLG gene variants result in absent or decreased filaggrin protein. Worldwide, the prevalence of FLG variants ranges from 14 to 56%. FLG null variants are distinct in each population. Objectives To study the FLG gene polymorphisms in Indian children and attempt a genotype-phenotype correlation in atopic dermatitis. Methods This was a cross-sectional, multicentre study conducted on 75 Indian children. Demographic details, clinical features and identified FLG null variants were recorded. We performed a whole gene sequencing of the entire FLG coding region using next-generation sequencing technology. Results The prevalence of FLG null variants was 34.7%. A total of 20 different FLG loss of function variants in 26 children were documented. Sixteen (80%) variants were novel and four (20%) were previously reported in Asian and European populations. We found a statistically significant association between FLG variants with early age of onset of atopic dermatitis (P = 0.016) and elevated serum IgE levels (P = 0.051). There was no significant difference between atopic dermatitis phenotypes in children having one variant as compared to children harbouring two or more null variants. Limitation Small sample size. Conclusion Our study reports a unique set of FLG variants different from Asian and European populations, with these variants being significantly associated with an early age of onset of atopic dermatitis and elevated serum IgE levels.

Comparative Study to Evaluate the Efficacy of Radiofrequency Ablation versus Trichloroacetic Acid in the Treatment of Xanthelasma Palpebrarum.

BACKGROUND: Xanthelasma palpebrarum (XP) is a metabolic disorder involving the eyelids. Radiofrequency(RF) surgery and trichloroacetic acid (TCA) applications have been listed among the procedures for XP, but comparative studies are not available. AIM: To compare the efficacy of radiofrequency surgery versus trichloroacetic acid application in the treatment of XP. SETTINGS AND DESIGN: 20 consecutive cases of XP attending dermatology, medicine and endocrinology out-patient departments of M.S. Ramaiah teaching hospital were enrolled for the study. It was an open-label clinical trial conducted in our hospital for a duration of 1 year. MATERIALS AND METHODS: 20 consecutive patients conforming to inclusion criteria were selected for the study. For each patient, lesions were treated with radiofrequency ablation on one side and TCA application on the other side. RESULTS: RF ablation was done for 12 patients over right eye lesions and 8 patients over the left eye lesions. TCA applications were done for 8 patients over right eye lesions and 12 patients over left eye lesions. 70% of lesions treated with RF ablation had a score of improvement of 4 and 70% of lesions treated with TCA application had a score of improvement of 4, at 4 weeks of follow-up. At four weeks of follow-up 40% in RF group and 15% in TCA group had scarring and 45% in RF group and 30% in TCA group had pigmentation. CONCLUSION: RF ablation as compared to TCA application, required fewer sessions for achieving more than 75% clearance of lesions. However, TCA applications were associated with fewer complications comparatively.