Improving melanoma diagnosis in primary care--a tele-dermatoscopy project.

TeleDerm is a web-based service designed to provide general practitioners (GPs) with rapid assessment of dermatoscopic images of pigmented lesions and moles. During a 12-month period, GPs at the Hastings and Rother primary care trust referred a total of 660 lesion images from patients exhibiting less typical symptoms of cancer, who would otherwise have been routinely referred to hospital. The images were assessed by remote expert dermatologists. Of that total, 493 images (75%) were reported as displaying no suspect dermatoscopic structures, resulting in the GP discharging the patient. In addition, seven lesions (1%) were reported as displaying suspect dermatoscopic structures, resulting in the GP urgently referring the patient to hospital with a subsequent histological confirmation of melanoma. The overall costs per patient were reduced by 50%. In an independent survey, all 11 patients rated their experience as good to excellent. The results show that tele-dermatoscopy can provide GPs with an expert second opinion to increase the quality of diagnosis in primary care, reduce the costs of dermatology provision and provide a highly rated patient experience.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

The striate form of palmoplantar keratoderma is a rare autosomal dominant disorder affecting palm and sole skin. Genetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutations in the desmosomal proteins desmoplakin and desmoglein 1. We have studied a four-generation family of British descent with striate palmoplantar keratoderma. Ultrastructural studies show that intermediate filaments of suprabasal keratinocytes are finer than those of the basal layer. In addition, desmosome numbers are normal, but their inner plaques and midline structures are attenuated. Microsatellite markers were used to screen candidate loci including the epidermal differentiation complex on 1q, the desmoplakin locus on 6p, the type I and II keratin gene clusters on chromosomes 12q and 17q, and the desmosomal cadherin gene cluster on chromosome 18q. Significant genetic linkage to chromosome 12q was observed using marker D12S368, with a maximum two-point lod score of 3.496 at a recombination fraction of 0. Direct sequencing of the keratin 1 gene revealed a frameshift mutation in exon 9 that leads to the partial loss of the glycine loop motif in the V2 domain and the gain of a novel 70 amino acid peptide. Using expression studies we show that the V2 domain is essential for normal function of keratin intermediate filaments.