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Abstract Introduction X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical facilities. Our work aims to figure out a sound diagnostic strategy for XLI. Patients and methods We collected 8 patients with XLI, all males, from 3 unrelated Tunisian families from central Tunisia. Genetic diagnosis was conducted through a large panel of genetic techniques including: Sanger Sequencing, haplotype analysis of STR markers, MLPA analysis, FISH and array CGH. Results Direct Sanger sequencing of the STS gene showed the same deletion of 13 base pairs within the exon 4 in all patients resulting in a premature stop codon. However, all patients’ mothers were not carriers of this variant and no common haplotype flanking STS gene was shared between affected patients. Sequence alignment with reference human genome revealed an unprocessed pseudogene of the STS gene located on the Y chromosome, on which the 13 bp deletion was actually located. STS MLPA analysis identified a deletion of the entire STS gene on X chromosome for all affected patients. This deletion was confirmed by FISH and delineated by array CGH. Conclusion All our patients shared a deletion of the entire STS gene revealed by MLPA, confirmed by FISH and improved by array CGH. Geneticists must be aware of the presence of pseudogenes that can lead to XLI genetic misdiagnosis.

Abstract Background This study aims to describe the epidemiological, clinical, and radiological features of appendicular abscesses, compare the different approaches, and assess the safety and utility of laparoscopy in its management. Methods This descriptive retrospective study was carried out over 3 years extending from January 2017 to December 2019, reporting 150 appendicular abscesses cases. Data were collected from the register of the general surgery department B of the Rabta hospital. Cases with appendicular abscess were included. Files concerning patients with early appendicitis, non-appendicular abscesses or generalized appendicular peritonitis were excluded. Data were analysed with Statistical Package for the Social Sciences (SPSS) software. In univariate analysis, we used the chi2 test, the Fischer test, the Student t test. The factors retained by the univariate analysis were introduced into a logistic regression model. The significance level was set to 0.05. Results The mean age was 40.51 years. The gender ratio in patients with appendicular abscesses was M:F 1.94:1. Pain in the right iliac fossa associated with fever was the most common symptom (78% of cases). Clinical examination showed tenderness in the right iliac fossa in 38% of cases, rebound and guarding were found in 77 patients (51.3%), and a palpable mass was noted in 4 cases (4.2%). Imaging was done to confirm diagnosis; 46 patients underwent ultrasonogram and this confirmed the diagnosis in 26 patients (56%), while among the 71 patients who underwent CT abdomen confirmatory diagnosis was made in 65 patients (91.55%). An appendectomy was performed in 148 patients (98.6%) via laparoscopic approach in 94 patients, open Mac burney procedure in 32 cases (21.3%) and midline incision in 24 cases (16%). Two patients had an ileocecal resection. The appendix was most commonly located retrocecally (55.3%) in our cohort. The laparoscopic approach was performed in 94 patients (62.6%), and we had to convert in 44 patients due to dissection difficulties (46.8%). Among patients who underwent laparascopic approach 7 had developed peritonitis.. There were only 2 deaths. The mortality rate was 0,013%. The median duration of outpatient followup was 6 months (4–24 weeks) and was uneventful. Conclusion Appendicular abscess is a disease of young adults more common in men. Location of the appendix in our case series was mostly retroceacal. Laparoscopy was associated with good outcomes; peritonitis was uncommon and mortality was rare. The laparoscopic approach is a safe surgical technique for treating appendicular abscess and it can be considered as the routine approach for this condition In developing countries with limited technical resources, laparoscopy guarantees the absence of recurrence, reduces healthcare costs and decreases the risk of treating a severe disease conservatively.

Abstract T‐cell lymphoblastic lymphoma (T‐LBL) is frequently revealed by amediastinal mass or peripheral lymphadenopathy. Skin lesions in T‐LBLusually present as multiple nodules associated with multiple peripherallymphadenopathy and bone marrow invasion. Our patient is particular bythe revealing presentation of the lesions as Cutis verticis gyrate.

Abstract Sweet syndrome is a rare inflammatory dermatosis that can be associated with various diseases, including leukemias. Physicians should be aware that a photodistributed clinical presentation of a pustular SS may reveal underlying malignancies, particularly hemopathies. If the hemopathy is known, recurrence lesions should be suspected of a relapse.

AbstractPityriasis rosea is a common, acute, self limiting inflammatory skin disease. Pityriasis rosea‐like eruptions (PR‐LE) have been reported after drugs. The clinical presentation of PR‐LE can be distinguished from pityriasis rosea. We reporte a 41‐year‐old woman who developed PR‐LE 5 days after administration domperidone.