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- Title
KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report.
- Authors
Budair, Fatimah Mohammad
- Abstract
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.
- Subjects
MACULES; GENETIC mutation; PHENOTYPES; OLDER patients
- Publication
Clinical, Cosmetic & Investigational Dermatology, 2024, Vol 17, p713
- ISSN
1178-7015
- Publication type
Case Study
- DOI
10.2147/CCID.S449691