{Reference Type}: Case Reports
{Title}: KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.
{Author}: Hegde SS;Srinivas SM;Nanjundappa N;
{Journal}: Indian Dermatol Online J
{Volume}: 14
{Issue}: 2
{Year}: 2023 Mar-Apr
暂无{DOI}: 10.4103/idoj.idoj_368_22
{Abstract}: 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.