Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Am J Med Genet A. 2011 Apr;155A(4):811-4. doi: 10.1002/ajmg.a.33907. Epub 2011 Mar 15.
Isolated leukonychia totalis is a rare condition of nails with mainly an autosomal dominant pattern of inheritance. In this report, we present three sibs (a sister and two brothers) with isolated congenital leukonychia totalis, without any manifestation among parents and other family members. The sibs had similar facial features and were offspring of consanguineous Egyptian parents. We discussed possible mechanisms of inheritance and suggested an autosomal recessive mode of transmission.
单纯性全白甲是一种罕见的指甲疾病，主要呈常染色体显性遗传模式。本报告介绍了三例同胞（一姐和两兄弟）患有孤立性先天性全白甲，父母和其他家庭成员均无此表现。这些同胞具有相似的面部特征，均为近亲埃及父母所生。我们讨论了可能的遗传机制，并提出了常染色体隐性遗传模式。
