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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. Limitations: 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. [ABSTRACT FROM AUTHOR]

Kimura’s disease is characterized by a triad of painless subcutaneous masses, eosinophilia in the peripheral blood and in tissues with marked increase in Serum Ig E. Angiolymphoid hyperplasia with eosinophilia (ALHE) manifests with the presence of dermal papules and nodules. Unique clinical, histopathological, and biochemical findings are noted in these individual entities. A 32‑year‑female presented with multiple nodules in the axillae for 2 years. Peripheral smear showed eosinophilia with AEC of 6080. Histopathological examination showed features of overlap. Antinuclear antibody immunoflorescence was was negative. CD31, CD34, and FVIII were positive in vascular component. A CT chest revealed left axillary lymphadenopathy. The patient was treated with Cryotherapy and there was complete regression of skin lesions, with no recurrence after 1 year of follow‑up. ALHE and KD are common in the head and neck region, but no reports of an overlap, presenting with lesions in the axillae are available to date, to the best of our knowledge. Response of skin lesions to cryotherapy is highlighted. [ABSTRACT FROM AUTHOR]