In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response

Piebaldism (OMIM #172800) is a rare hereditary disease of melanocyte development and is histologically characterized by the absence of melanocytes in the affected skin and hair [1,2]. A white forelock of hair, often triangular in shape, is unique and may be the only manifestation in 80%–90% of cases. Irregularly shaped white patches may be observed in the face, trunk and extremities mostly in a symmetrical distribution. Based on the depigmented patches, piebaldism is classified into three phenotypes: mild, moderate and severe forms.