Keratitis-ichthyosis-deafness syndrome: clinical aspects and pathogenesis

Abstract

Keratitis-ichthyosis-deafness(KID)syndrome is a rare genodermatosis characterized by vascular keratitis, ichthyosis and congenital sensorineural deafness. Patients with KID syndrome have a natural susceptibility to fungal and bacterial infection, and mixed infection may occur in severe cases. Tumors often coexist with this syndrome. Studies indicate that the development and complicating tumors of KID syndrome are related to mutations in the connexin 26 gene, and mutations at different loci are associated with different clinical manifestations. In recent years, some treatments(such as keratoplasty, cochlear implantation, retinoids and bevacizumab)have somewhat worked in some patients, but complete treatment system should include therapies against infection and malignancy. Key words: Keratitis, ichthyosis, and deafness syndrome; Genes; Mutation