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Finally, residual expression of LAMB3 protein in perilesional and uninvolved patient skin, as detected by western blot, further supports the presence of RM in these clinically restored skin areas (Fig. Common molecular mechanisms of phenotypic alleviation in genetic diseases include loss of heterozygosity (LOH), gene deletion, nondisjunction mutations, as well as nonsense codon readthrough and RNA I trans i -splicing. All authors declare to have no conflicts of interest or affiliations with organizations or entities with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript and that this information is accurate, complete and up-to-date. [Extracted from the article]

Background: Primary melanoma ulceration is an unfavourable prognostic factor included in current staging systems. Yet, the immunological and molecular alterations responsible for this adverse outcome have not been fully elucidated. Objectives: We aimed to identify immunological differences between ulcerated and non‐ulcerated primary melanomas concerning both innate and adaptive immunity and to correlate these with clinical outcome. Methods: Formalin‐fixed paraffin‐embedded primary melanomas from 112 patients (pts) were analysed by immunohistochemistry. The expression of various markers identifying tumour‐infiltrating lymphocytes, macrophages and dendritic cells was evaluated semi‐quantitatively by three independent investigators. Tumour cell expression of programmed death‐ligand 1 (PD‐L1), transporter of antigen processing 1 and the MxA protein was also analysed. Results: Recurrence occurred in 21/56 pts (37.5%) with ulcerated vs. 14/56 pts (25.0%) with non‐ulcerated tumours (P = 0.15). Tumour ulceration was associated with more frequent development of brain metastasis (17.6 vs. 3.6% of pts, P = 0.015). Immunohistochemistry showed an association of ulceration with the presence of intratumoural CD68+ macrophages (P = 0.028) as well as with increased numbers of intratumoural CD11c+ dendritic cells (P = 0.014) and CD163+ macrophages (P = 0.001). PD‐L1 positivity (expression in >1% of tumour cells) was more frequent in ulcerated than non‐ulcerated tumours [40 (72.7%) vs. 25 (44.6%), P = 0.003]. A positive correlation between intratumoural CD11c+ (Spearman's correlation coefficient ρ: 0.42) and CD163+ (ρ: 0.31) cell count and frequency of tumour cell PD‐L1 expression was detected. Conclusions: Our results confirm the adverse clinical outcome associated with primary melanoma ulceration, particularly concerning the risk of recurrence and subsequent development of brain metastases. The observed immunological differences suggest a conceivable role of increased intratumoural macrophage and dendritic cell counts associated with enhanced tumour cell PD‐L1 expression potentially contributing to the immunosuppressive, growth‐promoting microenvironment of ulcerated primary melanomas. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the effect of increased levels of matrix metalloproteinase-9 (MMP-9) and interleukin-8 (IL-8) in blister fluids of patients with dystrophic and junctional epidermolysis bullosa.

The article presents a case study of a one-month-old girl presented with nail dystrophy, oral leukoplakia and multiple subungual haematomas on both hands. Topics include laryngeal stenosis with an altered inspiratory stridor and horse cry as the most remarkable symptom, diagnosis of e autosomal recessive genodermatosis, laryngo-onycho-cutaneous syndrome (LOC), and suffering from LOC variant based on a plectin gene (PLEC) mutation, expressed in variety of tissues causing pleiotropic phenotypes.