title: [Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma].
abstract: 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).
authors: Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China. xinzhen_yin@163.com
authors: Xin-Zhen
authors: XZ
authors: Yin
authors: Bao-Rong
authors: BR
authors: Zhang
authors: Mei-Ping
authors: MP
authors: Ding
authors: Hao
authors: H
authors: Zhang
authors: Kun
authors: K
authors: Xia
authors: Zheng-Mao
authors: ZM
authors: Hu
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004817:Epidermis / Q000473:pathology; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D015776:Keratoderma, Palmoplantar, Diffuse / Q000235:genetics* / Q000473:pathology; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D053534:Keratin-9