KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report

Piebaldism is a rare genetic disorder caused by KIT mutations and clinically characterized by fixed depigmented patches throughout the body.Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described.The likely pathogenic, heterozygous KIT c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype.This case provides new knowledge on genotype-phenotype correlation of KIT mutations for piebaldism etiology and presentation.