Summary Background Australia has the highest incidence of cutaneous melanoma worldwide. Previous studies have identified some body areas (forearms and dorsal hands) have lower rates of melanoma than expected when compared with other similarly exposed areas, leading to the suggestion that endogenous immunological protective mechanisms in certain body sites may exist. Aims and Methods We hypothesise that examination of melanoma by body site in a regional Australian setting would demonstrate no significant variation in the incidence of melanoma across highly sun exposed areas including the head and neck and upper limbs. Results were stratified by body site and further examined by univariate correlation analysis by gender, age, body site, Breslow thickness and subtype. Polytomous logistic regression was used to test the difference in risk factors by location of melanoma. Results A total of 772 melanomas were included in the analysis. Melanomas of the upper limb were more likely to affect females (OR = 2.415 95%CI: 1.433‐4.072) and more likely to be thinner than other body sites. Compared to other international studies, statistically significant decreased rates of melanoma were seen on the upper limb compared to other areas of the body (X2 = 16.29, P < 0.001). Examination of sites of melanoma on the upper limb showed significantly decreased rate on the distal upper limb given relative body surface areas (X2 = 6.30 P = 0.04). Discussion and Conclusions Our study was limited by its retrospective nature, and the findings require validation in a larger prospective cohort. Further exploration of such mechanisms may lead to new insights into the immunological mechanisms surrounding cutaneous melanoma.
Summary Pachyonychia congenita (PC) describes a group of genodermatoses manifesting as thickened nails, palmoplantar keratoderma (PPK) and increased risk of cutaneous infections. PC tarda (PCT) describes late‐onset PC, and associated genetic polymorphisms have been identified. There has been discussion that PCT may not be a distinct entity but rather misdiagnosed ectodermal dysplasia (ED) or PPK. Clarification of this is important for appropriate diagnosis, management and patient and genetic counselling. We aimed to conduct a systematic review of all reported cases of PCT in the published literature and collate evidence of genetic polymorphisms and clinical features to compare with known features of PC, ED and PPK. PubMed (1946 to 1 July 2018), Scopus (1955 to 1 July 2018) and Web of Science (1990 to 1 July 2018) databases were searched for case reports of PCT with no search restrictions on date or language. The search strategy included the terms pachyonychia congenita tarda OR pachyonychia congenita AND (late onset OR delayed OR PCT). In total, 13 reports describing 19 individual cases of PCT were identified. Of the three identified genetic polymorphisms, the earliest identified has been shown to be highly probably pathogenic, with the second likely to result in a benign amino acid change, while the third has since been shown to be nonpathogenic,. No epigenetic studies have been performed on any reported cases. Previous authors have suggested that a number of cases of PCT may be misdiagnosed ED or PPK. The findings of our review cannot refute this suggestion, and highlight the need for thorough clinical documentation of suspected cases of PCT and thorough genetic screening of kindred to identify causative genetic polymorphisms. Further high‐quality datasets and reporting are needed to give further insight into the nature of PCT as a unique entity.
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