Abstract: A six-year-old girl presented with dry and rough of the skin all over the whole body, the skin of the hands, feet, elbows, knees and hips showed brown granular and leather change, the skin of palmar and plantar was hyperkeratosis, and the nails of fingers (toes) were thickened and deformed, hair and eyebrows were sparse, eyelashes were loss, hearing loss. A heterozygous mutation C.148G>A(p.D50N) was detected in exon 2 of GJB2 gene in peripheral blood of this child. Histopathological examination showed ichthyosis, and hearing examination showed deafness in both ears. The diagnosis of keratitis ichthyosis deafness syndrome (KID syndrome) was made.

Key words: keratitis-ichthyosis-deafness syndrome, GJB2 gene, gene mutation