Piebaldism is an autosomal dominant disorder characterized by congenital 
hypopigmented patches of skin and hair and has been found to be associated with 
mutations in the KIT or SLUG genes. Café-au-lait macules (CALM) may occasionally 
be seen in piebaldism. There are four reports describing six patients who were 
said to have both piebaldism and neurofibromatosis type 1 (NF1) due to the 
presence of multiple CALM and intertriginous freckling, but none of these 
patients had undergone comprehensive NF1 mutation analysis. We describe a large 
family with piebaldism in which two members meet diagnostic criteria for NF1 
based on the presence of >5 CALM and intertriginous freckling. Interestingly, 
only these two family members are of mixed race, which could be of importance. A 
novel complex mutation in the KIT gene was identified in several family members 
affected with piebaldism; the proband meeting diagnostic criteria for NF1 also 
underwent comprehensive NF1 and SPRED1 testing with no mutations detected. These 
findings suggest that piebaldism may occasionally include CALM and 
intertriginous freckling, which may create diagnostic confusion especially in 
the absence of a family history of piebaldism. However, careful clinical 
evaluation and molecular testing if necessary should distinguish these two 
disorders.