Mousavi-Asl Germeh Cheshmeh Mirsajjad, Najizadeh Ali, Hosseini-Asl Saied, Zaimkohan Hooshang, Jazayeri Roshanak
Student Research Committee, Ardabil University of Medical Sciences, Ardabil, Iran.
Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran.
Iran J Public Health. 2019 Jul;48(7):1369-1374.
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 () 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 with abnormal nails formation.
先天性指甲异常是罕见的外胚层缺陷。常染色体隐性遗传性指甲发育异常更为罕见。最近，它被认为是一种在没有其他皮肤或皮肤外疾病的情况下导致指甲营养不良的病症。很少有病例报告指出，在表现出与非综合征性先天性指甲发育异常一致的指甲异常的家族中，卷曲蛋白6（）基因存在突变。我们报告了一个家族，他们于2016年居住在伊朗西北部阿尔达比勒省的一个名为纳明的乡村，这是在伊朗首次发现的一个家族，我们在其中发现了与指甲异常形成相关的突变。
