Explore The Pathogenic Gene Of A Case Of Familial Eruptive Vellus Hair Cysts

Objective:In this study,we explore the unknown pathogenic genes in a family of eruptive vellus hair cysts involving three generations by next-generation sequencing and observe the protein expression in the lesion by immunohistochemistry to investigate the pathogenesis of the disease.Methods:We collected clinical data and blood samples from a familial eruptive eczematous cysts to study and draw a genealogical mapping.the whole-exome sequencing was performed to identify similar mutation loci to both patients,and all benign variants were removed,and the candidate probable pathogenic gene by comparison screening with relevant databases.Then verified by Singer sequencing to obtain the possible causative gene.Immunohistochemistry was performed to further clarify the differences in the expression of the possible pathogenic gene in normal and involved skin tissues.Results:Whole exome sequencing showed that the most common mutated genes in this family were MUC mucin family,FLG and AHNAK nucleoprotein,and analysis encoded protein functions by Genome Quest and other databases revealed that FLG was expressed in hair follicles and keratin,but no evidence of FLG mutation associated with this disease was found in several databases,and in normal human genetic for the phenotypic.But immunohistochemistry confirmed that FLG gene expression was higher in diseased skin tissues than in normal skin tissues.Conclusion:Whole-exome sequencing and Immunohistochemistry of the lesions tissue identified FLG as a possible pathogenic gene in familial eruptive vellus hair cysts.