< em > KIT < /em > Mutation Associated with Depigmented Patches Regression and Multiple Caf é-au-lait Macules Development in a Patient with Piebaldism: A Case Report

Clin Cosmet Investig Dermatol. 2024 Mar 20;17:713-716. doi: 10.2147/CCID.S449691. eCollection 2024.ABSTRACTPiebaldism 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.PMID:38524391 | PMC:PMC10961011 | DOI:10.2147/CCID.S449691

Source: Clinical, Cosmetic and Investigational Dermatology - March 25, 2024 Category: Dermatology Authors: Fatimah Mohammad Budair Source Type: research