Piebaldism and Neurofibromatosis Type 1: Horses of Very Different Colors  Richard A. Spritz  Journal of Investigative Dermatology  Volume 122, Issue 2, Pages xxxiv-xxxv (February 2004) DOI: 10.1046/j.0022-202X.2004.22235.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 A patient with autosomal dominant piebaldism due to a KIT gene mutation. This patient is heterozygous for an R791G missense substitution in the kinase domain of the KIT polypeptide (Spritz et al, 1993). Note café-au-lait spots and axillary freckling. Her mother is similarly affected (as are many other relatives), but neither have any nonpigmentary features of NF1. Journal of Investigative Dermatology 2004 122, xxxiv-xxxvDOI: (10.1046/j.0022-202X.2004.22235.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions