title: Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature.
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, and erythrokeratoderma, 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. We 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 on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented.
authors.affiliation: University of California, Irvine, California.
authors.forename: Viraat
authors.initials: V
authors.lastname: Patel
authors.forename: Grace
authors.initials: G
authors.lastname: Sun
authors.forename: Meghan
authors.initials: M
authors.lastname: Dickman
authors.forename: Phuong
authors.initials: P
authors.lastname: Khuu
authors.forename: Joyce M C
authors.initials: JM
authors.lastname: Teng
mesh_terms: D017255:Acitretin / Q000009:adverse effects / Q000627:therapeutic use*; D002648:Child; D003638:Deafness / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000188:drug therapy*; D007634:Keratitis / Q000175:diagnosis / Q000188:drug therapy*; D007641:Keratolytic Agents / Q000009:adverse effects / Q000627:therapeutic use*; D008297:Male; D012074:Remission Induction; D012867:Skin / Q000187:drug effects* / Q000473:pathology; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D007641:Keratolytic Agents; D017255:Acitretin
keywords: and deafness (KID) syndrome; ichthyosis; keratitis; systemic retinoid