KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence
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 di...
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| Main Authors: | , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2023-01-01T00:00:00Z.
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| Summary: | 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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| Item Description: | 2229-5178 10.4103/idoj.idoj_368_22 |