KID syndrome

Disease Overview

Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss.[12749] Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). Eye problems are caused by keratitis (inflammation of the cornea) which can lead to pain; sensitivity to light; extra blood vessel growth; scarring; and eventual vision loss or blindness.[12749] KID syndrome is caused by mutations in the GJB2 gene.[12747] Most cases are sporadic but familial cases with autosomal dominant inheritance have been reported.[4312] Treatment focuses on the specific symptoms present.[4312]

Synonyms

• Keratitis-ichthyosis-deafness syndrome, autosomal dominant
• KID syndrome, autosomal dominant
• Keratitis, Ichthyosis, and Deafness (KID) Syndrome
• KID/HID syndrome
• Senter syndrome
• Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
• Ichthyosis hystrix Rheydt type