Choung Yun-Hoon, Shin You Ree, Kim Hyon J, Kim You Chan, Ahn Jae Hong, Choi Seong Jun, Jeong Seong-Yong, Park Keehyun
Department of Otolaryngology, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon 443-721, South Korea.
Int J Pediatr Otorhinolaryngol. 2008 Jun;72(6):911-5. doi: 10.1016/j.ijporl.2008.02.023.
We report one child with keratitis-ichthyosis-deafness (KID) syndrome. The child showed sparse, short scalp and body hairs, ichthyotic skin, bilateral sensorineural hearing loss, and visual loss. These are associated with a nucleotide substitution, 148G>A, which results in amino acid change in codon 50 of gap junctional protein connexin (Cx) 26. Immunohistochemistry of skins showed up-regulation of Cx26 and down-regulation of Cx43. He has benefited from cochlear implantation for hearing even though low visual function and skin problems with high risk of infections. This is the very rare report about Cx expression in skins and cochlear implantation in KID syndrome.
我们报告了一名患有角膜炎-鱼鳞病-耳聋（KID）综合征的儿童。该儿童表现为头皮和身体毛发稀疏、短小，皮肤呈鱼鳞状，双侧感音神经性听力损失和视力丧失。这些症状与一种核苷酸替换（148G>A）有关，该替换导致缝隙连接蛋白连接蛋白（Cx）26的第50密码子发生氨基酸变化。皮肤免疫组化显示Cx26上调，Cx43下调。尽管视觉功能低下且皮肤问题导致感染风险高，但他通过人工耳蜗植入获得了听力改善。这是关于KID综合征皮肤中Cx表达和人工耳蜗植入的非常罕见的报告。
