Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT

Br J Dermatol. 2018 Nov;179(5):1210-1211. doi: 10.1111/bjd.16895. Epub 2018 Sep 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged, 80 and over
  • Biopsy
  • DNA Mutational Analysis
  • Disease Progression
  • Exome Sequencing
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Japan
  • Lentigo / genetics*
  • Lentigo / pathology
  • Male
  • Mutation, Missense
  • Pedigree
  • Proto-Oncogene Proteins c-kit / genetics*
  • Skin / pathology

Substances

  • KIT protein, human
  • Proto-Oncogene Proteins c-kit