Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end-stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub-epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria-like lesions. Usually, BP is an idiopathic disorder; however, in some cases, underlying internal disorders are present, like diabetes or neurological disorders. Herein, we present a 33-year-old man with ESRD, maintained on haemodialysis, who developed BP. There are only six cases with BP provoked by the placement of a fistula for haemodialysis. BP in the current patient was confirmed by direct immunofluorescence (DIF) and indirect immunofluorescence using BIOCHIP. The patient responded promptly to tertracycline and 0·05% clobetasol propionate lesionally. However, the relationship between BP and the fistula for haemodialisys still remains unknown. It is highly likely that the skin injury associated with fistula placement was responsible for the alteration of the basement membrane zone (BMZ) and the stimulation of the immune system, leading to BP development. To explain the real role of fistula placement as a provocative factor in BP, other such cases are required for assessment.

A large spot 532 nm laser is effective in previously treated patients with facial CM.

Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutations. About 180 distinct mutations have been identified so far; however, data of only few cases from Central Europe are available. The aim was to analyze the ATP2C1 gene in a cohort of Polish HHD patients. A group of 18 patients was enrolled in the study based on specific clinical symptoms. Mutations were detected using Sanger or next generation sequencing. In silico analysis was performed by prediction algorisms and dynamic structural modeling. In two cases, mRNA analysis was performed to confirm aberrant splicing. We detected 13 different mutations, including 8 novel, 2 recurrent (p.Gly850Ter and c.325-3 T > G), and 6 sporadic (c.423-1G > T, c.899 + 1G > A, p.Leu539Pro, p.Thr808TyrfsTer16, p.Gln855Arg and a complex allele: c.[1610C > G;1741 + 3A > G]). In silico analysis shows that all novel missense variants are pathogenic or likely pathogenic. We confirmed pathogenic status for two novel variants c.325-3 T > G and c.[1610C > G;1741 + 3A > G] by mRNA analysis. Our results broaden the knowledge about genetic heterogeneity in Central European patients with ATP2C1 mutations and also give further evidence that careful and multifactorial evaluation of variant pathogenicity status is essential. Keywords Hailey-Hailey disease. ATP2C1. Genodermatosis The data that support the findings of this study are available from the corresponding author upon reasonable request.

Introduction Cardiac abnormalities revealed in patients suffering from epidermolysis bullosa (EB) include dilated cardiomyopathy (DC) and aortopathy. DC is a rare but serious complication associated with an increased mortality, predominantly observed in recessive dystrophic EB. Echocardiography is the most available diagnostic tool used to detect heart disease in EB patients. Aim To analyse echocardiographic results obtained in Polish EB patients and compare them between the EB group and healthy persons. Material and methods We analysed retrospectively echocardiograms of 23 patients with EB (14 F, mean age 17.3 years) performed from 2017 to 2019. The incidence of left ventricular (LV) systolic and diastolic dysfunction, right heart disease and congenital heart disease was evaluated. A comparison of echo-parameters between EB patients and 20 matched healthy subjects was performed. Results We did not find any cases of DC and aortopathy in the EB group. One bicuspid aortic valve case was revealed. Analysis of LV diastolic parameters showed that the mean value of mitral A velocity was significantly higher and the pulmonary venous flow D velocity was lower in the EB group than in controls. Tissue Doppler analysis revealed lower values of E’ velocities of mitral annulus in the EB group, what may suggest discreetly slower LV relaxation, however, this will definitely require further research. Conclusions Although most EB patients do not present cardiac symptoms, there is still a risk of developing cardiomyopathy associated with poor prognosis. It seems reasonable to perform a scheduled echocardiographic screening including LV systolic and diastolic function assessment to detect preclinical cardiac abnormalities.

Background: The epidermis forms the barrier between an organism and its external environment. Although one of the major functional elements of the epidermis is the lipid-enriched extracellular matrix, containing mainly ceramides, cholesterol (CHOL) and free fatty acids, the data are limited regarding the lipid profile in the epidermis. The aim of the study was to determine the whole profile of fatty acids (FAs) in the epidermis and to examine any dependence according to the age of the subject and the site on the epidermis. Materials and methods: Epidermis extracts obtained from 10 adults and 6 children were analyzed by gas chromatography-mass spectrometry. Results: In total, 74 FAs in the human epidermis were identified. We observed the highest amounts of neutral lipids (including CHOL) compared to other lipid fractions in the epidermis, regardless of age. However, we detected an age-dependent content of the major lipid fractions, where the main difference was in the levels of polyunsaturated fatty acids. There were also differences in the lipid profile between various sites of the body, e.g. samples from the breast and abdomen were enriched with very long-chain fatty acids compared to the limb. Conclusion: Our research provides novel data concerning the lipid profile in the epidermis, gives further insight into skin biology and proves that the epidermis is a highly dynamic structure.