Author Affiliations: Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
We describe a 37-year-old white woman with keratitis-ichthyosis-deafness syndrome (KIDS). Genomic sequencing showed a heterozygous 148G →A transition in the connexin 26 gene (GJB-2 ; OMIM 121011) in codon 50 (D50N). The mutation found in our patient is the most common GJB-2 mutation in KIDS reported to date.1
Werchau S, Toberer F, Enk A, Helmbold P. Keratitis-Ichthyosis-Deafness Syndrome: Response to Alitretinoin and Review of Literature. Arch Dermatol. 2011;147(8):993-995. doi:10.1001/archdermatol.2011.216