title: KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
abstract: Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N (148G>A) in GJB2. The boy has not yet manifested characteristic eye lesions but his case shows that tardy development of eye signs should not preclude a clinical diagnosis of keratitis-ichthyosis-deafness syndrome. Besides the typical clinical features, the patient's height was above the 98th percentile and he displayed a delayed bone age in his hands. Additionally, he suffered from migrainoid headaches and the results of a magnetic resonance scan of the cerebrum showed he had a large cisterna magna which probably occurred independently from the syndrome. This patient is the first Danish patient in whom the keratitis-ichthyosis-deafness syndrome has been verified by mutation analysis.
authors.affiliation: Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark. anette.bygum@ouh.fyns-amt.dk
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.forename: Knud
authors.initials: K
authors.lastname: Kragballe
authors.forename: Torben
authors.initials: T
authors.lastname: Steiniche
authors.forename: Nils
authors.initials: N
authors.lastname: Peeters
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D000293:Adolescent; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness; D003718:Denmark; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D007634:Keratitis; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26