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Novel KIT mutation presenting as marked lentiginosis.
Tran, Alain K; Pearce, Annette; López-Sánchez, Marcos; Pérez-Jurado, Luis A; Barnett, Christopher.
  • Tran AK; Flinders Medical Centre, Adelaide, South Australia, Australia.
  • Pearce A; Adelaide Dermatology Associates, Western Hospital, Henley Beach, South Australia, Australia.
  • López-Sánchez M; Hospital del Mar Research Institute (IMIM), Network Centre for Biomedical Research in Rare Diseases (CIBERER) and Universitat Pompeu Fabra, Barcelona, Spain.
  • Pérez-Jurado LA; Hospital del Mar Research Institute (IMIM), Network Centre for Biomedical Research in Rare Diseases (CIBERER) and Universitat Pompeu Fabra, Barcelona, Spain.
  • Barnett C; South Australian Health and Medical Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
Pediatr Dermatol ; 36(6): 922-925, 2019 Nov.
Article en En | MEDLINE | ID: mdl-31497890
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Proto-Oncogénicas c-kit / Mutación Missense / Lentigo Límite: Child / Female / Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Proto-Oncogénicas c-kit / Mutación Missense / Lentigo Límite: Child / Female / Humans Idioma: En Año: 2019 Tipo del documento: Article