Keratitis-Ichthyosis-Deafness (KID) syndrome
KID syndrome, first described in 1915, is a rare genetic multi-system disorder. Only about a hundred cases have been published. Based on a review of many articles in the medical literature, it appears that all cases of KID syndrome have skin findings, which include red and rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment. In addition, 95% of patients developed eye findings, predominantly keratitis (inflammation of the cornea), which may manifest with photophobia (the eyes are very sensitive to light). A few percent of patients had only recurrent or chronic conjunctivitis (inflammation of the mucous membrane of the eye). Sparse hair or alopecia (baldness) is also quite common. The skin of the palms and soles is affected in about 95% of all patients, while 77% have absent or dystrophic (abnormal) nails. There is a whole spectrum of other associated abnormalities, including recurrent infections, abnormal teeth, reduced sweating, growth or mental delay, which may occur in some but not many patients. The clinical presentation may vary greatly between patients and may change over time. Due to the involvement of several organ systems and the potential impairment of hearing, speech, and sight, patients usually require multidisciplinary treatment.
KID syndrome is a genetic disorder and can be transmitted from a parent to a child in an autosomal dominant fashion. That means that each individual affected with the disease would have one abnormal and one normal copy of the disease gene. When, by chance, the abnormal gene copy is passed on to the offspring, the child will be affected. When the normal gene copy is transmitted, the child will be unaffected. The risk for an individual with KID syndrome to have an affected child is 50% for each pregnancy. Nevertheless, nine out of ten patients carry a new, spontaneously occurring mutation that is not present in either parent.
This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.
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