Abstract: Objective: To detect the mutations in two families with epidermolytic palmoplantar keratoderma (EPPK). Methods: DNA of blood samples from probands and relatives of two EPPK families, and 100 unrelated normal controls were extracted. Then, the KRT1, KRT9 and KRT16 genes were amplification and sequenced by direct sequencing. Results: The heterozygous mutation c.598T>C, p.F200L in KRT1 gene was found in proband of family 1, and the mutation c.488G>A, p.R163Q in KRT9 gene was found in three patients of family 2. These mutations were invisible in the normal of the two families and 100 unrelated normal controls. Conclusion: The cause of the two EPPK families is related to the mutations of KRT1 and KRT9 genes and the mutations of p.F200L in KRT1 gene is reported first in China.

Key words: epidermolytic palmoplantar keratoderma, heterogeneity, gene mutation