title: The KID-syndrome in Finland. A report of four cases.
abstract: We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.
authors.affiliation: Department of Ophthalmology, University of Kuopio, Finland.
authors.forename: K
authors.initials: K
authors.lastname: Tuppurainen
authors.forename: J
authors.initials: J
authors.lastname: Fräki
authors.forename: S
authors.initials: S
authors.lastname: Karjalainen
authors.forename: L
authors.initials: L
authors.lastname: Paljärvi
authors.forename: R
authors.initials: R
authors.lastname: Suhonen
authors.forename: M
authors.initials: M
authors.lastname: Ryynänen
mesh_terms: D000293:Adolescent; D000328:Adult; D001808:Blood Vessels / Q000473:pathology*; D002648:Child; D003315:Cornea / Q000098:blood supply*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005387:Finland; D005799:Genes, Dominant; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007634:Keratitis / Q000235:genetics*; D007642:Keratosis / Q000235:genetics; D008297:Male; D012867:Skin / Q000473:pathology; D013577:Syndrome