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Case Reports
. 2008 Jun;72(6):911-5.
doi: 10.1016/j.ijporl.2008.02.023.

Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome

Yun-Hoon Choung  1 , You Ree Shin, Hyon J Kim, You Chan Kim, Jae Hong Ahn, Seong Jun Choi, Seong-Yong Jeong, Keehyun Park
Affiliations
Case Reports

Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome

Yun-Hoon Choung et al. Int J Pediatr Otorhinolaryngol. 2008 Jun.

Abstract

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.

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