Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.

The sign of Leser-Trélat (LT) is defined as the sudden eruption of multiple seborrhoeic keratoses (SKs), or increase in the number and size of existing SKs, associated with an underlying malignancy. A 75-year-old man was admitted to our hospital with dyspnoea and multiple verrucous papules that had been developing gradually over the previous 30 years. During the 3 months before presentation, the number of SKs on his chest and back had increased rapidly. A diagnosis of nasopharyngeal carcinoma was made based on results of computed tomography, endoscopy and biopsy examinations. The patient is receiving radiotherapy at present. To our knowledge, this is the first case of the Leser-Trélat sign associated with nasopharyngeal carcinoma.