E. Bahloul

Role of FOXP3 gene polymorphism in the susceptibility to Tunisian endemic Pemphigus Foliaceus

OBJECTIVE Forkhead box P3 (FOXP3) is an essential and crucial transcription factor of regulatory T-cells. Genetic polymorphisms in the promoter region of FOXP3 gene may alter the gene expression level and, therefore, contribute to several autoimmune diseases susceptibility. We aimed to investigate the possible role of genetic variants of four SNPs (rs3761547, rs3761548, rs3761549 and rs2294021) and a (GT)n microsatellite located in FOXP3 gene in the susceptibility to Tunisian Pemphigus Foliaceus (PF). METHOD A case-control study was conducted on 98 patients with different clinical features of PF and 182 matched healthy controls using PCR-RFLP method. RESULTS According to the epidemio-demographic features of the disease, patients were classified into two groups: an endemic group (n=33, mean age=31 [18-48]) versus a sporadic one (n=65, mean age=36 [19-84]). In the whole population, rs3761548, rs3761549 and rs2294021 were associated with the susceptibility to PF. Interestingly, significant differences of gene distributions between the two sub-groups of patients were observed. In the endemic group, all associations observed in the whole population were maintained and reinforced and a new association was revealed with rs3761547; while in the sporadic group, only the association with rs3761549 was conserved. Further, the haplotype analysis showed that the G-A-C-15-C risk haplotype was significantly much more expressed in PF patients and specially in the endemic group. The phenotype-genotype correlation revealed that the rs3761548>AA genotype was significantly correlated with the severity of the disease including Nickolsky sign, generalized form of the disease and the earliest age onset. CONCLUSION These results underline the particular genetic background of the Tunisian endemic PF and suggest the implication of FOXP3 gene in the susceptibility and the clinical course of the disease.

Hymenal polyps in two infants

Pathological conditions of the hymen are rare in everyday medical practice. Hymenal polyps are polypoid formations originating from the hymenal rim and are benign and disappear spontaneously within a few weeks of onset. We report two cases of hymenal polyps in two infants.

Involvement of the IL23/Th17 Pathway in the Pathogenesis of Tunisian Pemphigus Foliaceus

Pemphigus foliaceus (PF) is a rare autoimmune skin disease caused by anti-Dsg1 pathogenic autoantibodies. It is considered as a Th2-mediated disease. Likewise, Th17 cells were recently described in the pathogenesis of the disease but their role is still unclear. We aimed to unravel the eventual implication of the IL23/Th17 pathway in the development of PF. A case-control study was conducted on 115 PF patients and 201 healthy controls using PCR-RFLP and AS-PCR methods. SNPs in IL23R, RORγt, IL17A, IL17F, IL17AR, TNFa, and STAT3 genes were genotyped. mRNA expression of IL23R and RORγt was evaluated using Q-PCR. The frequency of circulating Th17 cells was analyzed by flow cytometry. Genetic associations between IL23R>rs11209026, IL17A>rs3748067, IL17F>rs763780, and TNFa>rs1800629 and the susceptibility to PF were reported. Moreover, we revealed a significant increased frequency of circulating CD4+IL17+ cells as well as higher mRNA levels of RORγt and IL23R in PBMCs of patients. However, no significant increase of RORγt and IL23R mRNA expression was observed in lesional skin biopsies. In spite of the little size of specimens, our results provide converging arguments for the contribution of the IL23/Th17 pathway in the pathogenesis of PF.

Pemphigus herpetiformis in South Tunisia: a clinical expression of pemphigus foliaceus?

Pemphigus herpetiformis (PH) is a rare subtype of pemphigus combining clinical features of dermatitis herpetiformis and the immunopathologic characteristics of pemphigus. We aimed to analyze the epidemiological, clinical, and immunological presentation and management of the disease in a cohort of south Tunisian patients with a long‐term follow‐up.

Angiolymphoid hyperplasia with eosinophilia: report of nine cases

Angiolymphoid hyperplasia with eosinophilia (ALHE) is a benign vascular proliferation characterized by dermal or subcutaneous red or brown papules or nodules, most commonly on the head and neck.

Tumeur virilisante de l’ovaire : une cause rare d’alopécie androgénétique

dans 2 cas. Les néoplasies associées étaient : l’adénocarcinome pulmonaire, le mélanome acrolentigineux, le carcinome épidermoïde du larynx, la leucémie lymphoïde chronique B et le la maladie de Hodgkin. Ces néoplasies précédaient le LTC chez 2 patients ayant reçu une chimiothérapie, et étaient de découverte concomitante dans 2 cas et 6 ans plus tard chez une patiente traitée par méthotrexate. Discussion.— La survenue chez un même patient d’un LTC et d’une autre néoplasie primitive est rare. Il s’agit le plus souvent de néoplasies solides ou d’hémopathies malignes. Ces associations pourraient résulter de facteurs environnementaux, génétiques ou d’une infection sous-jacente par un virus oncogène. L’effet mutagène des chimiothérapies et certaines anomalies constitutionnelles des lymphocytes T et du système des cytokines ont été également incriminés. Une altération d’une cellule souche pourrait expliquer l’association de lymphomes B et T. Conclusion.— Les explorations initiales et de suivi des lymphomes cutanés primitifs sont loin d’être standardisées. Un contrôle périodique régulier est nécessaire pour un dépistage précoce de ces associations et de leurs facteurs favorisants individuels et environnementaux. Déclaration d’intérêt.— Aucun.