title: Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism.
abstract: Miminal diagnostic criteria for the diagnosis of neurofibromatosis 1 (NF1) includes six or more café-au-lait macules plus axillary freckling. However, a recent report by Duarte et al claims co-occurrence of piebaldism and NF1 using this minimal criteria. We assert that this is not an accurate conclusion because both of these pigmentary findings occur frequently in typical cases of piebaldism.
authors.forename: Richard
authors.initials: R
authors.lastname: Spritz
mesh_terms: D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009456:Neurofibromatosis 1 / Q000235:genetics*; D016116:Piebaldism / Q000235:genetics*; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit