| purpose : Epidermolytic hyperkeratosis ( also called bullous congenital ichthyosiform erythroderma) is an autosomally dominant dermatosis. In this study, we analyzed a family with EHK. The patients had typical clinical, histopathlogy and EM manifestations of EHK.Method: K1/K10 DNA fragments were amplified by PCR, then were directly sequanced.Result: The patient was found to be heterozygous for a point mutation G -C that produces an arginine-to-proline substitution in codon 156 at the start of the helix 1A domain of K10. The unaffected individual in the family had no alterations.Conclusion: our study showed again that the R10 position was hot point for mutation of EHK. It may provide a reliable basis for the prenatal diagnosis and genetic therapy. |
