[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma].
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).
Yin
Xin-Zhen
XZ
Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China. xinzhen_yin@163.com
Zhang
Bao-Rong
BR
Ding
Mei-Ping
MP
Zhang
Hao
H
Xia
Kun
K
Hu
Zheng-Mao
ZM
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
D053534:Keratin-9