[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma].

Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji

PubMedID: 17369150

Yin XZ, Zhang BR, Ding MP, Zhang H, Xia K, Hu ZM. [Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. Yi Chuan. 2007;29(3):301-5.
We report the clinical and pathological features of two pedigrees of palmoplantar keratoderma (PPK), the expression of keratin 9 (K9) in palm tissue and the mutation of the keratin 9 gene (KRT9). Histopathology and immunohistochemical assessment was performed to analyze the epidermis in the palm of the probands. Genomic DNA of 46 family individuals was used for amplification of exon 1 of KRT9. The mutations were determined by direct sequencing. Epidermal abnormalities in the palm of the two probands were characterized by vacuolar changes of suprabasal keratinocytes accompanied by thickening of the living epidermis and stratum corneum. K9 was also expressed in particular epithelial tissues. Direct sequencing of polymerase chain reaction products revealed heterozygous missense mutations in exon 1 of KRT9 (N160S and L167S) in the two families, respectively. N160S and L167S of KRT9 are disease-causing mutations in these two Chinese pedigrees with epidermolytic palmoplanter keratoderma (EPPK).