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The diagnosis of oral lichen planus (OLP) poses many challenges due to its nonspecific clinical symptoms and histopathological features. Therefore, the diagnostic process should include a thorough clinical history, immunological tests, and histopathology. Our study aimed to enhance the diagnostic accuracy of OLP by integrating direct immunofluorescence (DIF) results with clinical data to develop a multivariate predictive model based on the Artificial Neural Network. Eighty patients were assessed using DIF for various markers (immunoglobulins of classes G, A, and M; complement 3; fibrinogen type 1 and 2) and clinical characteristics such as age, gender, and lesion location. Statistical analysis was performed using machine learning techniques in Statistica 13. The following variables were assessed: gender, age on the day of lesion onset, results of direct immunofluorescence, location of white patches, locations of erosions, treatment history, medications and dietary supplement intake, dental status, smoking status, flossing, and using mouthwash. Four statistically significant variables were selected for machine learning after the initial assessment. The final predictive model, based on neural networks, achieved 85% in the testing sample and 71% accuracy in the validation sample. Significant predictors included stress at onset, white patches under the tongue, and erosions on the mandibular gingiva. In conclusion, while the model shows promise, larger datasets and more comprehensive variables are needed to improve diagnostic accuracy for OLP, highlighting the need for further research and collaborative data collection efforts.

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Taurodontism is a morphological anomaly of multirooted molars characterized by apical displacement of the pulp chamber, shortened roots, and the absence of constriction at the dentoenamel junction. It can negatively impact the outcome of dental treatment plans. This study aimed to compare the prevalence of taurodontism among contemporary and historical populations from Radom, Poland. Five hundred eighty-two panoramic radiographs of contemporary patients and 600 radiographs of historical individuals were analyzed using the Shifman and Chanannel index. Group differences were determined with Pearson's chi-square tests according to sex, site, tooth group, and historical period. The study also evaluated the degree of severity of taurodontism in relation to dental groups, gender, and the periods from which contemporary patients as well as historical individuals originated. In the contemporary population, taurodontism was observed in 34% of individuals. In the historical data, the highest prevalence of taurodontism (31%) was observed among individuals from the 18th and 19th centuries, while earlier periods exhibited considerably lower prevalence rates. Across contemporary and historical populations, the maxillary molars were the most commonly affected teeth. Hypotaurodontism was the most prevalent form of taurodontism. The prevalence of taurodontism has gradually increased from the 11th century to the current day. The results of the research are of great importance for the clinician in terms of planning comprehensive dental treatment.

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Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in LORICRIN have been described, with all of them but one being deletions or insertions. The significance of rare nonsense variants remains unclear. Furthermore, no data regarding the RNA expression in affected patients are available. The aim of this study is to describe the two variants in the LORICRIN gene found in two distinct families: the novel pathogenic variant c.639_642dup and a rare c.10C > T (p.Gln4Ter) of unknown significance. We also present the results of the transcriptome analysis of the lesional loricrin keratoderma epidermis of a patient with c.639_642dup. We show that in the LK lesion, the genes associated with epidermis development and keratocyte differentiation are upregulated, while genes engaged in cell adhesion, differentiation developmental processes, ion homeostasis and transport, signaling and cell communication are downregulated. In the context of the p.Gln4Ter clinical significance evaluation, we provide data indicating that LORICRIN haploinsufficiency has no skin consequences. Our results give further insight into the pathogenesis of LK, which may have therapeutic implications in the future and important significance in the context of genetic counseling.

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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.

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INTRODUCTION: Epidermolysis bullosa (EB) is a rare genetic skin disorder inherited either in autosomal recessive (AR) or autosomal dominant (AD) manner and characterized by blistering of the skin and mucous membranes. According to a subtype of EB, the oral manifestations and dental involvement vary in frequency and in severity. The most severe dental problems occur in patients with junctional epidermolysis bullosa (JEB) and severe generalized dystrophic epidermolysis bullosa (RDEB) and involve enamel erosion and development of blisters followed by painful oral wounds. Oral mucosa lesions decrease patients' quality of life and may contribute to difficulties in nutrition leading to cachexia. AIM: Assessment of efficacy of gentamicin 0.3% solution in the healing and preventing of oral erosions in patients with RDEB and evaluating its impact on the expression of type VII collagen. MATERIAL AND METHODS: The study included four female patients with RDEB, aged 16-42 who show different mutations in the COL7A1 gene and were administered the mouth rinse two times daily with a solution of 0.3% gentamycin for 4 consecutive weeks. Prior to and at the end of the study, the samples from oral mucosa were collected to estimate the expression of type VII collagen by immunofluorescence test. RESULTS: The clinical improvement of oral wounds healing and reduced number of new blisters and mucous membrane soreness as well as partial re-expression of type VII collagen was observed in all studied patients. CONCLUSIONS: Topical gentamicin therapy of oral cavity in RDEB patients resulted in clinical improvement of mucosal lesions and re-expression of collagen type VII.

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INTRODUCTION: Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a spectrum of clinical manifestations of blistering disorders caused by different mutations in the same KRT1 gene. AIM: To analyse the phenotypic spectrum of blistering disorders caused by the KRT1 mutations. MATERIAL AND METHODS: Four patients with an epidermal barrier defect manifesting as blistering with the KRT1 mutations were included to the study. The clinical course of the disease was analysed, histology, immunofluorescence and electron microscopic examinations were performed. RESULTS: An adult patient with severe ichthyosis with p.Asn188Lys mutation in exon 1 of KRT1 who occasionally develops blisters in adolescence represents epidermolytic hyperkeratosis, a newborn child who died 4 days after birth due to disruption of the epidermal barrier (extensive blister and erosions) with mutation p.Ser193Pro in the KTR1 gene and two adult sisters harbouring heterozygous mutation c.591+1A>G in the KRT1 gene who present superficial blisters induced by mild trauma from the birth up to adolescent life without ichthyosis suggesting the diagnosis of epidermolysis bullosa simplex. Histopathology in all adult patients showed cytoplasm disruption in keratinocytes of the stratum spinosum with keratohyalin granule-like structures and, on the ultrastructural level, the presence of keratin clumping confirming the pathology of keratin intermediate filaments. CONCLUSIONS: This study extends the knowledge of the clinical spectrum for the KRT1 gene mutations. This is the first description of familial dominant epidermolysis bullosa simplex linked to the KRT1 mutation.

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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.

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BACKGROUND: Current treatment of facial capillary malformations (CM) has limited efficacy. OBJECTIVE: To assess the efficacy of large spot 532 nm lasers for the treatment of previously treated facial CM with the use of 3-dimensional (3D) image analysis. PATIENTS AND METHODS: Forty-three white patients aged 6 to 59 were included in this study. Patients had 3D photography performed before and after treatment with a 532 nm Nd:YAG laser with large spot and contact cooling. Objective analysis of percentage improvement based on 3D digital assessment of combined color and area improvement (global clearance effect [GCE]) were performed. RESULTS: The median maximal improvement achieved during the treatment (GCE) was 59.1%. The mean number of laser procedures required to achieve this improvement was 6.2 (range 1-16). Improvement of minimum 25% (GCE25) was achieved by 88.4% of patients, a minimum of 50% (GCE50) by 61.1%, a minimum of 75% (GCE75) by 25.6%, and a minimum of 90% (GCE90) by 4.6%. Patients previously treated with pulsed dye lasers had a significantly less response than those treated with other modalities (GCE 37.3% vs 61.8%, respectively). CONCLUSION: A large spot 532 nm laser is effective in previously treated patients with facial CM.

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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.

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