KID syndrome in a 12-years-old boy

KID syndrome is a rare genetic disease accompanied by a triad of symptoms: keratitis, ichthyosis and deafness. Syndrome was first described in 1915 by Burns as congenital generalized keratoderma with damages of visual organ and mucous membranes. KID syndrome is caused by mutations in the gene GJB2 located on 13q12 chromosome, which encodes connexin-26 protein (Cx26). This protein, consisting of 226 amino acids, is expressed in many epithelial organs including the inner ear, skin and cornea. There are few data of effective treatment methods of KID syndrome, and no certain treatment algorithms are existed. The management of such patients is a complex interdisciplinary task, that involves observation by an ophthalmologist, a surdologist and a dermatovenereologist. Autosomal recessive and dominant inheritance factors are established in the described cases. KID syndrome was very severe in all various aged children and led to disability in early childhood. Timely syndrome diagnosis and medical care improve the social adaptation of patients. Children, whose hearing and vision are timely compensated, have much better chances to develop full speech and learning abilities. The managements of such children are different according to the literature data. The presented clinical observation shows exacerbation of the skin process and hearing impairment in patient who was treated by systemic retinoids. There was a tendency to recurrent suppurative processes in natural skin folds that led to almost total antibiotic resistance. The article discusses the treatment possibility of this patient with genetically engineered biological drugs. © 2024, Media Sphera Publishing Group. All rights reserved.