title: Piebaldism and neurofibromatosis: state of knowledge.
abstract: Despite progress in understanding the molecular basis, the diagnosis of neurofibromatosis 1 (NF 1) is based on clinical criteria, established by the National Institute of Health (NIH) Consensus Conference in 1987. The association of NF1 and piebaldism has been reported, but some authors disagree with this co-occurrence. In the light of present knowledge, we highlight that both entities might co-exist in the same patient.
authors: Hospital de São João, EPE Porto, Porto, Portugal.
authors: Ana
authors: A
authors: Duarte
authors: Alberto
authors: A
authors: Mota
authors: Teresa
authors: T
authors: Baudrier
authors: Paulo
authors: P
authors: Morais
authors: António
authors: A
authors: Santos
authors: Rita
authors: R
authors: Cerqueira
authors: Purificação
authors: P
authors: Tavares
authors: Filomena
authors: F
authors: Azevedo
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