Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain

The document describes a study involving a 5-year-old Japanese girl with piebaldism and her 35-year-old father, both of whom had a novel c-KIT gene mutation, G592E. This mutation, associated with the tyrosine kinase domain, was not present in 110 healthy controls, indicating its specificity to piebaldism. Over two years, both subjects experienced repigmentation in the leukoderma areas on their knees. The mutation is thought to cause a loss of function, resulting in a milder form of piebaldism. The study suggests that the presence of melanocytes in the repigmented areas, potentially activated by sunlight, is crucial for the repigmentation process in piebald patients. This indicates that certain c-KIT mutations may influence the ability for pigment recovery in this condition.