<i>KIT</i> 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

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.

Afiliación

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 en En | MEDLINE | ID: mdl-37089832

RESUMEN

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.

Palabras clave

Café au lait macules; KIT mutation; SPRED1; freckling; piebaldism

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Indian Dermatol Online J Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: India

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