PLACK Syndrome in Two Unrelated Indian Children Caused by Novel Pathogenic Variants in the CAST Gene.

PLACK syndrome is an autosomal recessively inherited genodermatosis characterized by peeling skin, leukonychia, acral keratoses, cheilitis, and knuckle pads caused by variants in CAST gene. This report describe two unrelated Indian children with typical features of PLACK syndrome and homozygous novel variants in the CAST gene.