Epidemiological, clinical, and therapeutic characteristics of Behçet's disease: a monocentric study in Tunisia

Introduction: to describe the epidemiological, clinical, therapeutic and evolving characteristics of Behçet´s disease and identify prognostic factors. Methods: we have realized a retrospective, single-center study, conducted over a period of 26 years and including 130 patients presenting Behçet´s disease and hospitalized in an Internal Medicine Department. Results: the mean age of the Behçet´s disease at onset was 30.3 ±8.8 years and that at diagnosis was 34.6 ±9.4 years. The sex ratio (male/female) was 2.5. The mean delay of diagnosis was 53.5 months. Oral aphthosis was constant. The frequency of the manifestations was: genital aphtosis 71.5%, pseudofolliculitis 84.6%, erythema nodosum 11.5%, positive pathergy test 50%, ocular disease 36.9%, venous thrombosis 30%, arterial disease 4.6%, joint damage 30.8%, neurological disease 19.2% and digestive disease 0.8%. The male gender was significantly associated with ocular involvement (p =0.02), venous disease (p =0.01) and occurrence of relapses (p =0.01). The mean follow up was 68.5 ± 77.3 months. The poor survival prognostic factors were male gender, ocular involvement, venous disease, cardiovascular disease, a duration of follow up ≤12 months and a diagnostic delay ≤ 24 months. Conclusion: improving the prognosis of Behçet´s disease requires a shortening of the time to diagnosis, multidisciplinary collaboration, intensive treatment of functional threats, regular monitoring, and patient adherence

An unusual presentation of celiac disease in adult patient

Abstract Pyoderma gangrenosum is among the exceptional extra‐intestinal manifestations of celiac disease. We report a case of a 52‐year‐old patient who presented with pyoderma gangrenosum that turned out to be the initial presentation of celiac disease

Differential Expression of ATM, NF-KB, PINK1 and Foxo3a in Radiation-Induced Basal Cell Carcinoma

Research in normal tissue radiobiology is in continuous progress to assess cellular response following ionizing radiation exposure especially linked to carcinogenesis risk. This was observed among patients with a history of radiotherapy of the scalp for ringworm who developed basal cell carcinoma (BCC). However, the involved mechanisms remain largely undefined. We performed a gene expression analysis of tumor biopsies and blood of radiation-induced BCC and sporadic patients using reverse transcription-quantitative PCR. Differences across groups were assessed by statistical analysis. Bioinformatic analyses were conducted using miRNet. We showed a significant overexpression of the FOXO3a, ATM, P65, TNF-α and PINK1 genes among radiation-induced BCCs compared to BCCs in sporadic patients. ATM expression level was correlated with FOXO3a. Based on receiver-operating characteristic curves, the differentially expressed genes could significantly discriminate between the two groups. Nevertheless, TNF-α and PINK1 blood expression showed no statistical differences between BCC groups. Bioinformatic analysis revealed that the candidate genes may represent putative targets for microRNAs in the skin. Our findings may yield clues as to the molecular mechanism involved in radiation-induced BCC, suggesting that deregulation of ATM-NF-kB signaling and PINK1 gene expression may contribute to BCC radiation carcinogenesis and that the analyzed genes could represent candidate radiation biomarkers associated with radiation-induced BCC

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

International audienceBackgroundBathing suit ichthyosis (BSI) is an uncommon phenotype classified as a minor variant of autosomal recessive congenital ichthyosis (ARCI). ObjectivesWe report a case of BSI in a 3-year-old Tunisian girl with a novel mutation of the transglutaminase 1 gene (TGM1). Case ReportThis infant had been born with a collodion membrane encasing her entire body. From the age of threemonths, brownish scaling was noted on the bathing suit area. Histology showed orthohyperkeratosis with acanthosis of the epidermis. The granular layer was normal, and the superficial dermis was mildly inflammatory, confirming a diagnosis of proliferating ichthyosis. Molecular analysis in the patient and her parents revealed the mutation I304F of TGM1. Treatment with emollients and keratolytics partially improved the patient's skin condition. ConclusionsBathing suit ichthyosis is an uncommon phenotype unique in its topography, which involves the trunk but spares the face and extremities. Previous studies using molecular analysis have shown that BSI is caused mainly by mutations in TGM1. Twenty missense mutations have been reported in BSI. Of these 20 missense mutations, nine occurred only in patients with the BSI phenotype and 11 were common to BSI and other types of ARCI. Until recently, there has been no genotype-phenotype correlation. Therefore, the same mutation of the transglutaminase 1 could result in either generalized ARCI or BSI. The present case demonstrates this phenotype in a White Tunisian patient with a novel mutation of TGM1 (I304F) not previously reported in BSI