Piebaldism and neurofibromatosis: state of knowledge

Dermatol Online J. 2013 Jan 15;19(1):17.

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.

Publication types

  • Letter
  • Comment

MeSH terms

  • Genetic Heterogeneity*
  • Humans
  • Male
  • Mutation, Missense*
  • Neurofibromatosis 1 / genetics*
  • Piebaldism / genetics*
  • Point Mutation*
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • Proto-Oncogene Proteins c-kit