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

Abstract

Piebaldism (MIM 172800) is an autosomal dominant disorder showing localized poliosis and leukoderma of the frontal scalp, forehead, ventral trunk, and extremities. On the other hand, vitiligo is an acquired pigmentation disease, and the white patches distributed typically in an acral and periorificial regions. The depigmented regions have been believed to be stable with piebaldism because of the congenital absence of melanocytes in those regions involved, whereas, the size and the distribution of depigmented macules alters in vitiligo by a selective destruction of the melanocytes.