Ozturk S, Can I, Eser B, Yazici H
Genet Couns. 2016;27(2):187-91.
Vohwinkel syndrome (VS), also known as keratoderma hereditaria mutilans, is a rare keratinization genetic disorder characterized by palmoplantar keratoderma, skeletal dysmorphisms and varying degrees of sensorineural deafness. Its mode of inheritance is autosomal-dominant, with mutations in loricrin and connexin 26 (GJB2) genes that manifest during infancy and boceme more evident during adulthood. We herein report a case of VS in a 23-year-old female exhibiting sensorineural hearing loss, palmar keratoderma and homozygous deletion mutation delE120 (c.358-360delGAG) in the GJB2 gene. VS, is a rare genetic disorder, should be considered in patients with palmoplantar keratoderma and hearing loss and should be investigated connexin 26 (GJB2) gene mutation.
沃温克尔综合征（VS），也称为遗传性残毁性角皮病，是一种罕见的角化遗传性疾病，其特征为掌跖角皮病、骨骼畸形以及不同程度的感音神经性耳聋。其遗传方式为常染色体显性遗传，由兜甲蛋白和连接蛋白26（GJB2）基因突变引起，这些突变在婴儿期出现，在成年期更为明显。我们在此报告一例23岁女性的VS病例，该患者表现出感音神经性听力损失、掌部角皮病以及GJB2基因的纯合缺失突变delE120（c.358 - 360delGAG）。VS是一种罕见的遗传性疾病，对于患有掌跖角皮病和听力损失的患者应予以考虑，并且应该对连接蛋白26（GJB2）基因突变进行检测。
