KID syndrome

Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss.^[1] 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.^[1] KID syndrome is caused by mutations in the GJB2 gene.^[2] Most cases are sporadic but familial cases with autosomal dominant inheritance have been reported.^[3] Treatment focuses on the specific symptoms present.^[3]

KID syndrome is present from birth. Nearly all affected individuals have skin involvement and sensorineural deafness or severe hearing impairment. Skin symptoms may 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).^[4][1] Affected patches of skin can occur anywhere on the body.^[1] Breaks in the skin can lead to infections, which can be life-threatening in severe cases (especially in newborns). Hearing loss is usually severe, but occasionally is less severe.^[1]

Most affected individuals also develop eye problems that are primarily caused by keratitis (inflammation of the cornea). Keratitis can lead to pain; sensitivity to light (photophobia); extra blood vessel growth (neovascularization); scarring; and progressive vision loss. In severe cases, it can lead to blindness.^[1] A small percentage of people may have recurrent or chronic inflammation of the mucous membrane of the eye (conjunctivitis).^[4]

Other features of KID syndrome may include:^[4][1]

• sparse hair or areas of baldness (alopecia), often affecting the eyebrows or eyelashes
• absent, small, or abnormal nails
• abnormal teeth
• reduced sweating
• an increased risk for developing squamous cell carcinoma of the skin (this develops in about 12% of affected individuals)

We were unable to find specifiic information about intelligence being affected in those with this condition. However, the combined vision and hearing loss may lead to developmental delay. Cerebellar and neuromuscular defects have also been reported in a few cases.^[3]

In general, the skin manifestations are progressive. The skin lesions are also prone to infection and rare fatal cases of severe recurrent infections have been reported.^[3] The cutaneous fungal infections that occur in those with KID syndrome are generally not contagious. However, exposure to a high concentration of the fungi would be more likely to cause infection in other staff members or students. If the child has a cutaneous fungal infection, it would be appropriate to treat topically, both to control the signs and symptoms and to reduce exposure to others.^[5] 

You might also consider contacting the following support organization as they may be able to provide additional information: 

Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA18915
Toll free: 1-800-545-3286
Telephone: 215-997-9400
E-mail: info@firstskinfoundation.org
Web site: http://www.firstskinfoundation.org/