KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
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.
Bygum
Anette
A
Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark. anette.bygum@ouh.fyns-amt.dk
Betz
Regina C
RC
Kragballe
Knud
K
Steiniche
Torben
T
Peeters
Nils
N
Wuyts
Wim
W
Nöthen
Markus M
MM
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26