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.
|Number of pages
|Journal of the European Academy of Dermatology and Venereology
|Published - 2002
- Keratin 9 gene
- Xepidermolytic palmoplantar keratoderma