first report of a known pathogenic variant in the fzd6 gene, in an iranian family with recessive nail dysplasia: a case report

Congenital nail abnormalities are rare ectodermal defects. autosomal recessive nail dysplasia is much rarer. recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extra-cutaneous disorders. few case reports have identified mutations in the frizzled 6 (fzd6) gene in families presenting with abnormal nails consistent with non-syndromic congenital nail dysplasia. we report a family presenting, they lived in namin a country of the ardabil province, northwestern iran in 2016, for the first time in iran in whom we identified mutations in fzd6 with abnormal nails formation.