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In Chapter I, the subject of dermatoglyphics was introduced, and the aims of the present study outlined: to establish the range of local variation of various dermatoglyphic traits in the South Wales Coalfield and surrounding areas. Chapter II described the area studied in more detail, paying, attention to its physical geography and historical demography. In Chapter III, the sample itself was introduced, problems and methods of sampling touched upon and procedures for the analysis and interpretation of dermatographic prints presented, mentioning problems of classification and the current ideas on the mode of inheritance of the various traits. Chapter IV dealt with the analysis of the data collected. The distribution of the data sets v/as first described using univariate procedures, and then the inter-relationships between the sub- populations created investigated, using multivariate procedures, in particular the Generalised Distance statistic of Aahalanobis (D(^2)). The findings of the statistical analysis were discussed in Chapter V, and placed in the context of other investigations of dermatoplyphic variation and previous studies of genetic variation in Wales. An attempt was made to account for the pattern of local hetoroneneity disclosed by the study and the degree of care which should be exercised in the delineation of local populations in any study of Genetic relationships also emphasised.

The Lothian Atopic Dermatitis Study was designed to quantify the economic burden of atopic dermatitis and to measure the impact on the quality of life of patients with this common condition. The study population was a semi-rural general practice of 9,786. A sampling scheme was devised to identify as many as possible of those in the practice with atopic dermatitis. One-year period prevalences were calculated by standard methods for age groups < 2, 2-11, 12-15, 16-24, 25-40, 41+. Expense, estimated over a 2 month period, was attributed to the patient, health service or society according to the source. One unpublished quality of life measure was used for children and two well-validated measures, the Dermatology Life Quality Index and the Patient Generated Index, were competed by adults. The one year period prevalences were 9.8% for the under 2's, 8.1% age 2-11, 2.2% age 12-15, 2.1% age 16-24, 2.0% age 25-40 and 0.2% over 40's. This pattern shows clearly the sharp decline in the prevalence of atopic dermatitis during teenage and adult years. The largest source of cost to patients was clothing and laundry, and the mean annual cost to patients was £153. Treatments accounted for the largest source of expenditure by the health service giving a mean cost per patient of £97. There were 58 lost working days and 17 lost school days by all patients as a result of atopic dermatitis. If these results were extrapolated to the U.K. population they would represent a total annual expenditure of £172m by patients, £125m by the health service and £168m by society. This adds up to £465m per annum or a per capita cost of £7.38 per annum. The quality of life measures reflected the range of severity of atopic dermatitis in the community. The Dermatology Life Quality Index was not specific for atopic dermatitis but correlated significantly with the Patient Generated Index. Clinical studies are necessary to characterise adult atopic dermatitis and emphasise the pressure from the heavy economic burden and impaired life quality.

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Pustular Psoriasis (PP) is a rare and disabling inflammatory skin disorder that is associated with an increased risk of plaque psoriasis (also known as psoriasis vulgaris or PV). While two PP genes (IL36RN and AP1S3) have been discovered, less than 30% of the patients harbour mutations at these loci. Moreover, the main genetic determinant for PV susceptibility (HLA-Cw6) is not associated with pustular psoriasis. Therefore, the molecular pathogenesis of PP and its clinical association with psoriasis vulgaris remain poorly understood. The aim of the current study was to investigate these issues through the genetic analysis of extended patient resources. In the first part of the project, the possibility that the IL36RN gene may contribute to PV susceptibility was investigated by sequencing the gene in 363 unrelated individuals and re-analysing genome-wide association data. No enrichment of IL36RN mutations was detected in cases compared to controls, indicating that this important genetic determinant of pustular psoriasis does not confer PV susceptibility. Next, the CARD14 locus, which had been previously associated with familial PV, was screened in an extended pustular psoriasis cohort (n=205). This revealed a low-frequency p.Asp176His allele that caused constitutive CARD14 activation in functional assays and was significantly enriched in Asian cases compared to controls (P=8.4x10-5; OR=6.4). In the final part of the project, 17 patients affected by pustular psoriasis were exome-sequenced to identify genes that may be involved in the pathogenesis of the disease and contribute to the increased PV risk. Stepwise filtering of variant profiles uncovered a number of candidate genes that were followed-up in European (n=92) and Asian validation cohorts (n=94). Although extensive genetic heterogeneity was observed, a number of loci deserving further investigation were defined, paving the way for the identification of novel genetic determinants of skin inflammation.

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Rationale: Current empirical yet atheoretical psychodermatological literature demonstrates the importance of demographic and psychodermatological factors in the distress experienced in adult acne. Objectification Theory (OT) provides a promising approach to understand distress, which has not previously been explored for relevance in this group. OT emphasises the roles of body surveillance and body shame. The potential relevance of both general and acne-specific OT constructs to further understanding of distress in adult acne has been demonstrated. The study’s aim was to explore the relevance of demographic, psychodermatological and OT factors in predicting distress in this population. Method: A cross-sectional design was used to examine relationships between age, psychodermatological factors (acne severity, visibility, duration), general OT factors (body surveillance, body shame), acne-specific OT factors (acne surveillance, acne shame) and emotional distress variables (low self-esteem, depression, anxiety, appearance-distress). 116 adults receiving acne treatment completed a series of questionnaires online examining the study variables. Four hierarchical multiple regression analyses were conducted. Results: Age and the psychodermatological set of variables contributed a relatively limited proportion of the variance in predicting distress, and only significantly predicted appearance-distress. The general OT set of variables contributed the greatest proportion of the variance, followed by the acne-specific set. Both sets significantly predicted each distress variable. Acne shame was the most important individual predictor. Overall, the relationship patterns between the OT and distress variables provided some tentative support for the OT framework. Conclusion: The findings question the relative utility of demographic and psychodermatological variables in understanding emotional distress in adult acne, and reveal the importance of OT factors. They demonstrate the relevance of both general and acne-specific OT constructs in predicting distress and therefore the potential utility of OT in this area. The findings also demonstrate the possible promise of applying the OT framework to understand distress in this population.

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