Content » Vol 85, Issue 2

Clinical Report

KID Syndrome: Report of a Scandinavian Patient with Connexin-26 Gene Mutation

Anette Bygum , Regina C. Betz , Knud Kragballe , Torben Steiniche , Nils Peeters , Wim Wuyts , Markus M. Nöthen
DOI: 10.1080/00015550410024148

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.

Significance

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