Background: Epidermolytic palmoplantar keratoderma is an autosomal dominant inherited disorder of keratinization.
Methods: We studied five members of a Jewish family with epidermolytic palmoplantar keratoderma. Genomic DNA was extracted from leucocytes, and exon 1 of the keratin 9 gene was amplified using polymerase chain reaction techniques.
Results: The mutation was found in exon 1 of the keratin 9 gene in codon 160.
Conclusions: Like most of the other families with clinical features of epidermolytic palmoplantar keratoderma the mutation is found in exon 1 of the keratin 9 gene.