Abstract
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. Among these, 23 mutations are located in the 1A region (a mutation hot spot region), 7 are located in the 2B region, and the remaining 3 are synonymous mutations. In this study, three heterozygous mutations (p.N161S, p.R163W, and p.R163Q), located in regions of the gene encoding the conserved central a-helix rod domain, were detected in the KRT9 gene of the three large Chinese families. This study confirms that codon 163 (48 of 100 cases) is a hot spot mutation site for KRT9. Additional findings identified p.N161S (4%) and p.R163W (4%) as potential hot spot mutations for EPPK associated with knuckle pads, and p.R163Q (15 of 100 cases) as the hot spot mutation of EPPK not occurring in combination with knuckle pads. In conjunction with future studies, this research may help lay the foundation for genetics counseling, prenatal diagnosis and clinical treatment of EPPK.
Highlights
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200), known as Vorner’s palmoplantar keratosis, is an autosomal dominant inherited disease characterized by diffuse, yellow thickening of the palm and sole with an erythematous margin
Domestic and foreign scholars have found 33 KRT9 gene mutations in 100 Epidermolytic palmar hyperkeratosis (EPPK) families, of which 15 cases are associated with knuckle pads
We found that the mutations of EPPK associated with knuckle pads (15% of 100 cases) are p.N161S (4%), p.R163W (4%), p.L168S (3%), p.M157T (1%), p.L160F (1%), p.C406R (1%), and p.L458p (1%)
Summary
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200), known as Vorner’s palmoplantar keratosis, is an autosomal dominant inherited disease characterized by diffuse, yellow thickening of the palm and sole with an erythematous margin. It was first described in 1901 by Vorner. Some patients may have hyperhidrosis, knuckle pads, camptodactyly and digital mutilation (Lu et al, 2003; Du et al, 2011; Umegaki et al, 2011). Domestic and foreign scholars have found 33 KRT9 gene mutations in 100 EPPK families, of which 15 cases are associated with knuckle pads. Cases of EPPK were analyzed to look for genotypephenotype correlations by searching the database and consulting the literatures, providing a theoretical basis for the prenatal diagnosis of, genetic counseling for, and clinical treatment of EPPK
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