Two clinical observations of keratitis-ichthyosis-deafness syndrome (KID syndrome)

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic disorder characterized by erythrokeratoderma, vascular keratitis and sensorineural hearing loss. The disease develops as a result of a mutation in the GJB2 gene encoding the connexin 26 protein, which is expressed in the epidermis and is involved in the formation of gap junctions between epithelial cells that carry out transport of ions and small molecules. Changes in the skin are usually noticed from birth, they may manifest as erythrokeratoderma, psoriasis-like lesions, hyperkeratosis foci, palmoplantar keratoderma. Alopecia totalis progresses with age. Congenital bilateral prelingual sensorineural hearing loss is diagnosed in 90% of patients, and neovascular keratitis — in 95%. Half of the patients experience persistent skin infection, and the development of benign and malignant tricholemmal tumors as well as squamous cell carcinoma is possible. In recent years, a search for drugs capable of restoring the patency of gap junction channels, which significantly improves the skin condition in research animals, has been performed. Effective therapeutic agents will be discovered in the future. Currently, patients are primarily treated symptomatically. We present a case report of two patients suffering from KID syndrome. In both cases, the disease began from birth and was manifested by ichthyosiform erythroderma, palmoplantar keratoderma, alopecia totalis, onychodystrophy, sensorineural deafness, chronic keratitis and photophobia. Despite the full set of diagnostic symptoms, the first patient was diagnosed with KID syndrome at the age of 29, and the second patient — at the age of 10. In the second case, genetic analysis confirmed the GJB2 gene mutation (p.Asp50Asn). The course of the disease was accompanied by a persistent bacterial infection, manifesting as the formation of abscesses, predominantly in the head area, and cracks on the skin of the extremities. An improvement in the skin condition was observed in presence of symptomatic therapy with antibacterial agents, emollients and retinoids.