Rapid Expansion of a Teledermatology Web Application for Digital Dermatology Assessment Necessitated by the COVID-19 Pandemic: Retrospective Evaluation.

BACKGROUND: The COVID-19 pandemic necessitated a change in the provision of outpatient care in dermatology. OBJECTIVE: A novel, asynchronous, digital consultation platform was codeveloped with 2 National Health Service dermatology teams to improve access and enhance choice in outpatient care. METHODS: The rollout of the platform was accelerated during the initial COVID-19 lockdown, and its wider use across 2 Scottish health boards was retrospectively evaluated. Integrated with the hospital booking system and electronic patient record, the platform provides an alternative to face-to-face consultations, using information and images submitted by the patients. RESULTS: In total, 297 new patient consultations and 108 return patient consultations were assessed, and 80% (324/405) of the images submitted were of satisfactory quality. The consultations were, on average, 3 minutes shorter than equivalent face-to-face interactions, and a total of 5758 km of patient travel was avoided. Outcomes included web-based reviews (66/405, 16.3%), face-to-face reviews (190/405, 46.9%), biopsies (46/405, 11.4%), discharge (89/405, 22%), and other treatments or investigations (14/405, 3.5%). High levels of patient satisfaction (92/112, 82.1%) were reported. CONCLUSIONS: Digital dermatology assessments are now included in the choices for consultation types that are available to patients, helping to augment service capacity during pandemic recovery.

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies.

BACKGROUND: For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. DESIGN AND METHODS: Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling. DISCUSSION: Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields.

The physiological and phenotypic determinants of human tanning measured as change in skin colour following a single dose of ultraviolet B radiation.

Experimental study of the in vivo kinetics of tanning in human skin has been limited by the difficulties in measuring changes in melanin pigmentation independent of the ultravioletinduced changes in erythema. The present study attempted to experimentally circumvent this issue. We have studied erythemal and tanning responses following a single exposure to a range of doses of ultraviolet B irradiation on the buttock and the lower back in 98 subjects. Erythema was assessed using reflectance techniques at 24 h and tanning measured as the L* spectrophotometric score at 7 days following noradrenaline iontophoresis. We show that dose (P < 0.0001), body site (P < 0.0001), skin colour (P < 0.0001), ancestry (P = 0.0074), phototype (P = 0.0019) and sex (P = 0.04) are all independent predictors of erythema. Quantitative estimates of the effects of these variables are reported, but the effects of ancestry and phototype do not appear solely explainable in terms of L* score. Dose (P < 0.0001), body site (P < 0.0001) and skin colour (P = 0.0365) or, as an alternative to skin colour, skin type (P = 0.0193) predict tanning, with those with lighter skin tanning slightly more to a defined UVB dose. If erythema is factored into the regression, then only dose and body site remain significant predictors of tanning: therefore neither phototype nor pigmentary factors, such as baseline skin colour, or eye or hair colour, predict change in skin colour to a unit erythemal response.

Genetic determinants of hair and eye colours in the Scottish and Danish populations.

BACKGROUND: Eye and hair colour is highly variable in the European population, and is largely genetically determined. Both linkage and association studies have previously been used to identify candidate genes underlying this variation. Many of the genes found were previously known as underlying mutant mouse phenotypes or human genetic disease, but others, previously unsuspected as pigmentation genes, have also been discovered. RESULTS: We assayed the hair of a population of individuals of Scottish origin using tristimulus colorimetry, in order to produce a quantitative measure of hair colour. Cluster analysis of this data defined two groups, with overlapping borders, which corresponded to visually assessed dark versus red/light hair colour. The Danish population was assigned into categorical hair colour groups. Both cohorts were also assessed for eye colour. DNA from the Scottish group was genotyped at SNPs in 33 candidate genes, using 384 SNPs identified by HapMap as representatives of each gene. Associations found between SNPs and colorimetric hair data and eye colour categories were replicated in a cohort of the Danish population. The Danish population was also genotyped with SNPs in 4 previously described pigmentation genes. We found replicable associations of hair colour with the KITLG and OCA2 genes. MC1R variation correlated, as expected, with the red dimension of colorimetric hair colour in Scots. The Danish analysis excluded those with red hair, and no associations were found with MC1R in this group, emphasising that MC1R regulates the colour rather than the intensity of pigmentation. A previously unreported association with the HPS3 gene was seen in the Scottish population. However, although this replicated in the smaller cohort of the Danish population, no association was seen when the whole study population was analysed. CONCLUSIONS: We have found novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population.