KID Syndrome
Other names: keratitis, ichthyosis and deafness
OMIM: 148210
Inheritance:autosomal dominant
Incidence: very rare
Key findings:
- skin: sharply outlined and irregularly shaped red plaques with accuminate scale; face more commonly involved than extremities or trunk; generalized, mild erythema and fine scale in some individuals; spiny, keratotic thickening of the palms in some
- hair: follicular plugging and generalized sparse or absent hair (common)
- nails: small, malformed nails (common)
Associated findings:
- eyes: progressive inflammation and thickening of the cornea (keratitis)
- ears: non-progressive hearing loss
Age at first appearance: birth
Long-term course: often begins as congenital ichthyosiform erythroderma; usually improves during the first year of life leaving the characteristic findings described above; bacterial and fungal infections of the skin appear to be more common than normal, as do skin and mucous membrane cancers
Diagnostic tests: none
Abnormal gene: GJB2 encoding connexin-26
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