Case Report

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 extracutaneous 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.



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IssueVol 48 No 7 (2019) QRcode
SectionCase Report(s)
Nail dysplasia FZD6 gene Autosomal recessive Iran

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How to Cite
MOUSAVI-ASL GERMEH CHESHMEH M, NAJIZADEH A, HOSSEINI-ASL S, ZAIMKOHAN H, JAZAYERI R. First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report. Iran J Public Health. 48(7):1369-1374.