Date: 01/20/2015

Treatment of Keratitis-Ichthyosis-Deafness (KID) syndrome in children: A case report and review of the literature.

Authors Patel V1, Sun G, Dickman M, Khuu P, Teng JM, University of California, Irvine, California.

Research Abstract: Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis (inflammation of the cornea), and erythrokeratoderma (plaques of redness and scaling), affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern, especially in children.

Investigators report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis (thickening of the outer most layer of epidermis, known as the stratum corneum) on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on this treatment for over a year without notable ocular, skeletal, or laboratory side effects. Full Abstract. (© 2014 Wiley Periodicals, Inc.)

Research Conclusion: Dr. Joyce Teng, a member of FIRST’s Medical Advisory Board and University of California Irvine research team notes, “The research suggests that with proper monitoring, low dose systemic retinoids can be used to treat skin problems long term in children with KID syndrome with little side effects to other organ systems, such as the liver and the eyes.” More information on KID Syndrome.

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