Literature DB >> 31497890

Novel KIT mutation presenting as marked lentiginosis.

Alain K Tran1, Annette Pearce2, Marcos López-Sánchez3, Luis A Pérez-Jurado3,4,5, Christopher Barnett5.   

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.
© 2019 Wiley Periodicals, Inc.

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Keywords:  developmental defects; dyspigmentation; genetic diseases; mechanisms

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Year:  2019        PMID: 31497890     DOI: 10.1111/pde.13952

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  1 in total

1.  Case Report: A Missense Mutation of KIT in Hyperpigmentation and Lentigines Unassociated With Systemic Disorders: Report of a Chinese Pedigree and a Literature Review.

Authors:  Lu Yang; Yuehua Liu; Tao Wang
Journal:  Front Med (Lausanne)       Date:  2022-05-25
  1 in total

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