Dippold S, Butsch F, Schopf R, Keilmann A
Hals-, Nasen-, Ohrenklinik und Poliklinik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz.
HNO. 2013 Jul;61(7):617-9. doi: 10.1007/s00106-012-2607-x.
The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). This hereditary autosomal dominant disease is caused by mutation of the GJB2 gene that encodes the protein connexin 26. In our case it was highly likely that the GJB2 gene in the father carried a spontaneous mutation that was inherited by the daughter.
感音神经性听力损失与手足皮肤角化病同时出现的情况较为罕见。我们报告了一例新生儿听力筛查未通过且双手和双足均出现皮肤角化病的患儿病例。患儿的父亲也表现出相同的症状组合，这是致残性角化病伴耳聋（Vohwinkel综合征）的典型表现。这种常染色体显性遗传病是由编码连接蛋白26的GJB2基因突变引起的。在我们的病例中，父亲的GJB2基因很可能发生了自发突变并遗传给了女儿。
