Ichthyosiform erythroderma-deafness-keratitis

background

Ichthyosiform erythroderma-deafness-keratitis, also known as keratitis ichthyosis deafness or KID syndrome, is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These genetic disorders can be inherited in an autosomal dominant manner.
Symptoms of KID syndrome include problems with the eyes, specifically, gradual destruction of the lens and cornea, possibly leading to blindness; problems with the skin, which becomes red and scaly; and hearing deficits, including deafness or severe hearing loss.
Most cases of KID syndrome are caused by a mutation or defect in the GJB2 gene, which provides instructions for making the connexin 26 and connexin 30 proteins. Connexin 30 has been associated with some forms of deafness. Connexin 30 is located in the epidermis, which may explain some of the skin symptoms associated with KID syndrome. The GJB2 gene also encodes for the protein connexin 26, which is associated with disorders of the skin and with deafness.
KID syndrome usually occurs as the result of a spontaneous mutation in the egg or sperm cells or in the developing embryo.
When it is inherited, or passed down among family members, KID syndrome follows a dominant pattern of inheritance, meaning that only one copy of the defective gene must be inherited for the disease to occur.
KID syndrome is extremely rare, with fewer than 100 known cases reported in the scientific literature. Its exact incidence is unknown. There is no cure for KID syndrome. Treatment aims to reduce symptoms and prevent complications.

Related Terms

Connexin 26, connexin 30, corneal transplant, dry eye, dysplastic nails, ectodermal dysplasia, erythrokeratoderma, fish-skin disease, GJB2 gene, ichthyosiform erythroderma corneal involvement and deafness syndrome, ichthyosis, keratectomy, keratitis, keratitis ichthyosis deafness syndrome, KID syndrome, palmoplantar hyperkeratosis, squamous cell carcinoma, tarsorrhaphy.

types of the disease

There have been reports of a form of ichthyosiform erythroderma-deafness-keratitis, or KID syndrome, that is fatal during the first year of life. Death occurs as the result of severe skin problems and a serious bacterial blood infection.
A condition called hystrix-like ichthyosis-deafness (HID) syndrome, which has symptoms and complications similar to those of KID syndrome, may be a related disorder. However, this remains the subject of some controversy.