Novel KIT mutation presenting as marked lentiginosis

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 g...

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Veröffentlicht in:	Pediatric dermatology 2019-11, Vol.36 (6), p.922-925
Hauptverfasser:	Tran, Alain K., Pearce, Annette, López‐Sánchez, Marcos, Pérez‐Jurado, Luis A., Barnett, Christopher
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Child Dermatology developmental defects dyspigmentation Female genetic diseases Genetic disorders Genetic diversity Humans Hyperpigmentation KIT protein Lentigo - genetics mechanisms Mutation Mutation, Missense Pediatrics Proto-Oncogene Proteins c-kit - genetics Whole Exome Sequencing
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Zusammenfassung:	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.
ISSN:	0736-8046 1525-1470
DOI:	10.1111/pde.13952