Novel KIT mutation presenting as marked lentiginosis

Pediatr Dermatol. 2019 Nov;36(6):922-925. doi: 10.1111/pde.13952. Epub 2019 Sep 9.

Abstract

Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi-system pathological processes occur. Here, we report the case of a 6-year-old girl who presented with atypical lentiginosis and hyperpigmentation caused by a de novo genetic variant in the KIT gene.

Keywords: developmental defects; dyspigmentation; genetic diseases; mechanisms.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Exome Sequencing
  • Female
  • Humans
  • Lentigo / genetics*
  • Mutation, Missense*
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

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