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KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.
Hegde, Shibhani S; Srinivas, Sahana M; Nanjundappa, Nijaguna.
Afiliação
  • Hegde SS; Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
  • Srinivas SM; Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
  • Nanjundappa N; Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Indian Dermatol Online J ; 14(2): 240-244, 2023.
Article em En | MEDLINE | ID: mdl-37089832
Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of KIT gene with no pathogenic variants of NF1 or SPRED1 gene. Our current understanding of the KIT tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Indian Dermatol Online J Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Indian Dermatol Online J Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia