Unusual malar rash with ulceration: What can we expect?

Abstract Considering the clinical polymorphism of the disease, longstanding skin lesions located on the face, resembling erysipelas in an endemic area should always be investigated for CL and thus, atypical presentations should be kept in mind

An unusual pigmented skin lesion on the nipple‐areola area

Abstract Considering the rarity and underdiagnoses of this disorder, a pigmented and hyperkeratotic skin lesion located on the trunk, resembling to acanthosis nigricans should always be investigated for terra firma‐forme dermatosis (TFFD) and thus alcohol must be applied. TFFD should be known among dermatologists and can be easily diagnosed and treated with isopropyl alcohol

Unilateral hyperpigmented lesion of the breast

Abstract Muco‐cutaneous melanosis is a benign entity with no progression. Although, dermoscopic features may help to differentiate melanosis from malignant pigmented diseases, histopathology remains crucial for the confirming of melanosis of the nipple and areola. Herein, we represent a new case of melanosis of the areola and we describe its clinico‐pathological aspects

Lichenoid lesions around the anus: An unusual site of Hailey–Hailey disease

Abstract The anal region is an unusual site of Hailey–Hailey disease. It manifests with lichenoid lesions with crusted erosions around the anus. It should be differentiated from condylomata acuminata, extramammary Paget disease, and bowenoid papulosis

Unusual facial lesions in H syndrome

Abstract H Syndrome is a rare genodermatosis. It may include facial involvement such as: facial telangiectasia, both hypo‐ and hyperpigmented lesions, hirsutism, swollen cheeks due to subcutaneous infiltration and eczematous lesions. We describe a new facial phenotype with dermoscopic and histological features in the spectrum of non‐Langerhans cell histiocytosis

Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus

Abstract Background Several studies have suggested that polymorphisms within genes encoding T‐lymphocyte immune regulating molecules: CD28, CTLA‐4, and ICOS, may alter the signaling process and subsequently could be involved in susceptibility to a broad spectrum of autoimmune diseases. Methods This study aimed to replicate associations between common polymorphisms in the 2q33.2 cluster and susceptibility to pemphigus foliaceus (PF) in the Tunisian population. We investigated seven polymorphisms: rs3116496 and rs1879877 (CD28), rs231775, rs3087243, and (AT)n repeat (CTLA4); rs11889031 and rs10932029 (ICOS) in a case–control study which enrolled 106 Tunisian PF patients and 205 matched healthy controls. Results We confirmed the associations with CTLA4((AT)13, p = 0.00137, OR = 3.96 and (AT)20, p = 0.008, OR = 5.22; respectively) and ICOS genes (rs10932029>CT, p = 0.034, OR = 2.12 and rs10932029>TT, p = 0.04 and OR = 0.41). Conclusion Our results indicate that susceptibility to PF is located in the proximal and the distal 3′ flanking region of the CTLA4/ICOS promoter. These findings may open avenues to the treatment of patients with biological drugs targeting CTLA4/ICOS molecules, in a personalized manner to achieve more effective treatment

Genes regulating oxidative-inflammatory response in circulating monocytes and neutrophils in septic syndrome

Despite significant progress in the past decades, sepsis still lacks a specific treatment. Under normal conditions, leucocytes play a critical role in controlling infection and it is suggested that their activity is impaired during sepsis which contribute to the dysregulation of immune reactions. Indeed, in response to infection, several intracellular pathways are affected mainly those regulating the oxidative- inflammatory axis. Herein, we focused on the contribution of NF-kB, iNOS, Nrf2, HO-1 and MPO genes in the pathophysiology of septic syndrome, by analyzing the differential expression of their transcripts in circulating monocytes and neutrophils, and monitoring the nitrosative/oxidative status in septic syndrome patients. Circulat- ing neutrophils of septic patients displayed a significant overexpression of NF-kB compared to other groups. In monocytes, patients with septic shock expressed the highest levels of iNOS and NF-kB mRNA. However, genes involved in cytoprotec- tive response had increased expression in patients with sepsis, in particular, the Nrf2 and its target gene HO-1. Moreover, patient monitoring indicates that the iNOS enzyme expression and NO plasma levels may play a role in assessing the severity of septic conditions. Overall, in either monocytes or neutrophils, we pointed out the major role of NF-κB and Nrf2 in the pathophysiological process. Therefore, therapies targeted to redox abnormalities may be useful for better management of septic patients

Adverse reactions due to the bacillus Calmette-Guerin vaccine: Twenty Tunisian cases

Background: Bacillus Calmette-Guérin (BCG) vaccine is a widely used vaccine. Management of local BCG complications differs between clinicians, and the optimal approach remains unclear. Aims: We aim to describe the epidemiological, clinical and therapeutic aspects of the BCG vaccine side effects in Sfax. Patients and Methods: This was a retrospective study of all the cases of BCG vaccine adverse reactions recorded in the Dermatology and Paediatrics Departments of Hedi Chaker University Hospital of Sfax over a period of 10 years (2005–2015). Results: Twenty cases of BCG adverse reactions were notified during the study period. Actually, 80% of the patients presented local adverse reactions. The outcome was good in all the followed patients. The rate of disseminated BCG disease was 20%. Biological tests of immunity showed a primary immunodeficiency in three cases, whereas the outcome was fatal in two cases. Conclusion: BCG vaccine adverse reactions range from mild to severe. However, the management of benign local reactions remains unclear. Disseminated BCG disease must alert clinicians to the possibility of a primary immunodeficiency

Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus

Abstract Background Almost 5% of the world's population develops an autoimmune disease (AID), it is considered the fourth leading cause of disability for women, who represent 78% of cases. The sex ratio when it comes to the most prevalent AID varies from 9:1 in systemic lupus erythematosus (SLE) to 13:1 in endemic Tunisian pemphigus foliaceus (PF). Methods To test the potential involvement of skewed x‐inactivation in the pathogenesis of Tunisian PF, we analyzed the methylation status of a highly polymorphic CAG repeat in the androgen receptor gene and evaluated the x chromosome inactivation (XCI) patterns in peripheral blood‐leukocyte‐derived DNA samples of female patients with PF (n = 98) compared to healthy control (HC) subjects (n = 150), as well as female patients with SLE (n = 98) were enrolled as a reference group. Results XCI status was informative for 50 of the 98 PF patients (51%) and 70 of the 150 HC women (47%). Extremely skewed XCI patterns were more frequent in PF and SLEwomen than HC, but the difference was statistically significant only in women with SLE. No statistical difference was observed in XCI patterns between PF and SLE patients. PF phenotype‐XCI correlation analysis revealed that (i) skewed XCI patterns may be involved in the disease's subtype and (ii) it was more pronounced in the endemic group than the sporadic one. Furthermore, preferential XCI showed an increase in heterozygote genotypes of PF's susceptibility polymorphisms in immunity‐related X genes (FOXP3, AR, and TLR7) in PF patients compared to HC. Conclusion Our results suggest that skewed XCI could lead to hemizygosity of X‐linked alleles that might unmask X‐linked deleterious alleles

Differential Expression of Anti-Inflammatory RNA Binding Proteins in Lupus Nephritis

Lupus nephritis (LN) is a type of immunological complex glomerulonephritis characterized by chronic renal inflammation which is exacerbated by infiltrating leukocytes and fueled by a variety of pro-inflammatory cytokines. A profound understanding of the pathogenesis of LN is necessary to identify the optimal molecular targets. The role of RNA-binding proteins (RBPs) in post-transcriptional gene regulation in the immune system is being explored in greater depth to better understand how this regulation is implicated in inflammatory and autoimmune diseases. Tristetraprolin (TTP), Roquin-1/2, and Regnase-1 are 3 RBPs that play a critical role in the regulation of pro-inflammatory mediators by gating the degradation and/or translational silencing of target mRNAs. In this study, we proposed to focus on the differential expression of these RBPs in immune cells and renal biopsies from LN patients, as well as their regulatory impact on a specific target. Herein, we highlight a novel target of anti-inflammatory treatment by revealing the mechanisms underlying RBP expression and the interaction between RBPs and their target RNAs