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Novel KIT mutation presenting as marked lentiginosis.

Alain Khoi TranAnnette PearceMarcos López-SánchezLuis A Pérez-JuradoChristopher Barnett
Published in: Pediatric dermatology (2019)
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.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • genome wide identification