Psoriatic Arthritis Quality of Life questionnaire: Translation, cultural adaptation and validation into Arabic language.

BACKGROUND: Psoriatic arthritis (PsA) is a multifaceted inflammatory disease that has a strong negative impact on the quality of life (QoL) of patients. The Psoriatic Arthritis Quality of Life (PsAQoL) questionnaire was the first disease-specific patient-derived instrument developed to measure the QoL in patients with PsA. Our objective was to translate the PsAQol into Arabic language and evaluate its reliability and validity in patients with PsA. METHODS: This was a cross-sectional study including patients with PsA. A clinical and biological assessment of the patients was performed at inclusion. The translation of the original PsAQoL into Arabic was performed by a professional bilingual and lay panel. Eight patients were interviewed to assess face and content validity. A separate sample of PsA patients (n = 30) were invited to participate in a test-retest postal study in order to investigate reproducibility and construct validity. One week separated the two administrations. The Arabic version of Health Assessment Questionnaire (HAQ) was used as a comparator instrument for convergent validity. RESULTS: Face and content validity were satisfactory. The Arabic version of the PsAQoL was found to be relevant, understandable and easy to complete in only a few minutes. One item was excluded (item 16). It had no correlation with either the other 19 items or the total score of PsAQol. The Arabic PsAQol had excellent internal consistency (Cronbach's a = 0.926), and test-retest reliability (r = 0.982). There was a positive correlation between the total score of the PsAQoL and the Arabic version of HAQ (Spearman's r = 0.838, p < 10-3 ). Exploratory factor analysis had extracted two factors explaining 55% of the total variance. CONCLUSION: Nineteen items were selected to compose the Arabic version of PsAQoL, which was found to be relevant and understandable and has excellent reliability and construct validity. The new measure will be a valuable new tool for use in routine care for patients' assessment.

Prognostic Value of Routine Blood Parameters in Intensive Care Unit COVID-19 Patients.

Introduction: Laboratory medicine has an important role in the management of COVID-19. The aim of this study was to analyze routinely available blood parameters in intensive care unit COVID-19 patients and to evaluate their prognostic value. Patients and methods: This is a retrospective, observational, single-center study including consecutive severe COVID-19 patients who were admitted into the intensive care unit of Ben Arous Regional Hospital in Tunisia from 28 September 2020 to 31 May 2021. The end point of the study was either hospital discharge or in-hospital death. We defined two groups based on the outcome: survivors (Group 1) and non-survivors (Group 2). Demographical, clinical, and laboratory data on admission were collected and compared between the two groups. Univariate and multivariate logistic regression analysis were performed to determine the predictive factors for COVID-19 disease mortality. Results: A total of 150 patients were enrolled. Eighty patients (53.3%) died and 70 (46.7%) survived during the study period. Based on statistical analysis, median age, Simplified Acute Physiology Score (SAPS II) with the serum levels of urea, creatinine, total lactate dehydrogenase (LDH), creatine kinase, procalcitonin and hs-troponin I were significantly higher in non-survivors compared to survivors. On multivariate analysis, LDH activity ≥ 484 U/L (OR=17.979; 95%CI [1.119-2.040]; p = 0.09) and hs-troponin I ≥ 6.55 ng/L (OR=12.492; 95%CI [1.691-92.268]; p = 0.013) independently predicted COVID-19 related mortality. Conclusion: Total LDH and hs-troponin I were independent predictors of death. However, further clinical investigations with even larger number of patients are needed for the evaluation of other laboratory biomarkers which could aid in assessing the prediction of mortality.

Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.

Xeroderma pigmentosum (XP) is a DNA repair disease that predisposes to early skin cancers as cutaneous melanoma. Melanoma microenvironment contains inflammatory mediators, which would be interesting biomarkers for the prognosis or for the identification of novel therapeutic targets. We used a PCR array to evaluate the transcriptional pattern of 84 inflammatory genes in melanoma tumors obtained from XP patients (XP-Mel) and in sporadic melanoma (SP-Mel) compared to healthy skin. Commonly expressed inflammatory genes were further explored via GTEx and GEPIA databases. The differentially expressed inflammatory genes in XP were compared to their expression in skin exposed to UVs, and evaluated on the basis of the overall survival outcomes of patients with melanoma. Monocyte subsets of patients with SP-Mel, XP and healthy donors were also assessed. PCR array data revealed that 34 inflammatory genes were under-expressed in XP-Mel compared to SP-Mel. Differentially expressed genes that were common in XP-Mel and SP-Mel were correlated with the transcriptomic datasets from GEPIA and GTEx and highlighted the implication of KLK1 and IL8 in the tumorigenesis. We showed also that in XP-Mel tumors, there was an overexpression of KLK6 and KLK10 genes, which seems to be associated with a bad survival rate. As for the innate immunity, we observed a decrease of intermediate monocytes in patients with SP-Mel and in XP. We highlight an alteration in the immune response in XP patients. We identified candidate biomarkers involved in the tumorigenesis, and in the survival of patients with melanoma. Intermediate monocyte's in patients at risk could be a prognostic biomarker for melanoma outcome.

Cutis verticis gyrata: Three cases illustrating three different etiologies.

Cutis Vertcis gyrata is an uncommon neurocutaneous syndrome characterized by excessive growth of the skin of the scalp or the face, forming folds of similar aspect to cerebral cortex gyri. Three categories have been individualized: the primary form, essential or non-essential, and the secondary form.

Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype.

Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair system (NER). It is characterized by an extreme sensitivity to sunlight that induces cutaneous disorders such as severe sunburn, freckling and cancers. In Tunisia, six complementation groups have been already identified. However, the genetic etiology remains unknown for several patients. In this study, we investigated clinical characteristics and genetic defects in two families with atypical phenotypes originating from the central region in Tunisia. Clinical investigation revealed mild cutaneous features in two patients who develop multiple skin cancers at later ages, with no neurological disorders. Targeted gene sequencing revealed that they carried novel variants. A homozygous variation in the ERCC4 gene c.1762G>T, p.V588F, detected in patient XP21. As for patient XP134, he carried two homozygous mutations in the DDB2 gene c.613T>C, p.C205R and c.618C>A, p.S206R. Structural modeling of the protein predicted the identified ERCC4 variant to mildly affect protein stability without affecting its functional domains. As for the case of DDB2 double mutant, the second variation seems to cause a mild effect on the protein structure unlike the first variation which does not seem to have an effect on it. This study contributes to further characterize the mutation spectrum of XP in Tunisian families. Targeted gene sequencing accelerated the identification of rare unexpected genetic defects for diagnostic testing and genetic counseling.

Chronic macrocheilia: a clinico-etiological series of 47 cases.

BACKGROUND: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi-etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. METHODS: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. RESULTS: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson-Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. CONCLUSIONS: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms.

Dermoscopic features of mucosal lichen planus.

BACKGROUND: Lichen planus (LP) is a chronic inflammatory dermatosis that affects the skin and the mucous membranes. The literature on the dermoscopic aspects of mucosal LP is still scarce. This study aimed to describe the dermoscopic aspects of mucosal LP and to provide a comprehensive updated summary of the literature. METHODS: This was a cross-sectional, multicenter study conducted in Charles Nicolle, La Rabta, and Habib Thameur hospitals from December 2019 to October 2020. We included patients with histologically confirmed mucosal LP for whom a dermoscopic examination was performed. RESULTS: Twenty-seven patients were enrolled. The main dermoscopic structures observed were as follows: Wickham's striae (WS) (91%), vessels (88%), pigmentated structures (41%), erosions (63%), scales (34%), and blunting of lingual papillae (3.1%). WS patterns were as follows: reticular (67%), radial (48%), annular (30%), globular (15%), dotted/starry sky (15%), and veil-like blue or grey-white homogenous pattern (19%). Vascular structures were as follows: linear (85%), dotted (70%), looped (22%), and peripheral sea anemone-like vessels (37%). These vessels were distributed in a radial arrangement at the periphery of the lesions in 67% of the cases. Pigmented structures included brown/blue globules (33%), grey-blue dots (30%), and brown dots (26%). CONCLUSION: Dermoscopic features of mucosal LP are varied. WS is the hallmark of LP. The distribution and aspects of WS in mucosal LP were slightly different from those described in cutaneous LP. Physicians should be aware of these dermoscopic features that could help differentiate LP from other mucosal inflammatory diseases.

Intradermal tranexamic acid microinjections: a novel treatment option for erythematotelangiectatic rosacea.

BACKGROUND: Treatment options for erythematotelangiectatic rosacea (ETR) are still scarce. Tranexamic acid (TXA) is an antifibrinolytic drug that was recently used for the treatment of ETR. AIMS: To evaluate the efficacy and safety of intradermal microinjections of TXA for ETR. PATIENTS/METHODS: This was a retrospective study enrolling patients, treated with TXA intradermal microinjections for ETR, from January 2019 to February 2020. Response to treatment was assessed based on subjective symptoms, clinical photographs, and the Investigator Global Assessment of Rosacea Severity Score (IGA-RSS). RESULTS: Six patients were included. The mean number of monthly intradermal TXA microinjections was 5.1 ± 1.3. The mean decrease of IGA-RSS was 2.4 ± 0.5. Local side effects, mainly transient erythema and swelling, were noticed in three cases. No systemic effects were noted. Clinical improvement, in respondent patients, lasted after 3 months of follow-up. CONCLUSION: Intradermal TXA microinjections are a safe and effective treatment option for ETR. The optimal number of monthly sessions has yet to be determined.

Acquired epidermodysplasia verruciformis in renal-transplant recipients.

Acquired epidermodysplasia verruciformis in renal-transplant recipients is associated with a high risk for developing squamous cell carcinoma. An accurate diagnosis and a regular monitoring in this high-risk population must be stressed.

Dermoscopic features of lupus miliaris disseminatus faciei: Distinct aspects depending on disease stage.

Dermoscopy is a useful tool that helps distinguish lupus miliaris disseminatus faciei (LPDF) from sarcoidosis and tuberculosis. Follicular keratotic plugs (FKP) represent the hallmark of LPDF. Dermoscopic aspect of LPDF changes through the course of the disease.

Effectiveness of dermoscopy in the demarcation of surgical margins in slow Mohs surgery.

There is a need for adjuvant imaging techniques that would allow reducing the number of slow Mohs stages. This study aimed to evaluate the use of dermoscopy in the demarcation of basal cell carcinoma (BCC) surgical margins for slow Mohs surgery. This was a retrospective study over 3 years (2016-2019), including patients with BCC excised using slow Mohs surgery. On the basis of the treatment received, the patients were divided into 2 groups: group 1 (28 BCC) and group 2 (26 BCC). In group 2, BCC margins were demarcated using dermoscopy. A total of 54 patients were enrolled in the study. The number of positive lateral margins was significantly lower in the group where BCC margins were demarcated using dermoscopy (19% vs 53%, P = .012). In this group, the number of Mohs stages needed to achieve complete clearance was significantly lower. However, the mean interval between the first Mohs excision and Mohs clearance was not significantly different between the 2 groups (9 ± 4 vs 12 ± 7 days). In conclusion, preoperative dermoscopy is useful for reducing the number of positive lateral margins and the number of slow Mohs stages in treating BCC especially pigmented tumors.

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an example of accelerated photo-aging. It is a genetically and clinically heterogeneous disease. Eight complementation groups have been described worldwide. In Tunisia, five groups have been already identified. In this work, we investigated the genetic etiology in a family with an atypically mild XP phenotype. Two Tunisian siblings born from first-degree consanguineous parents underwent clinical examination in the dermatology department of the Charles Nicolle Hospital on the basis of acute sunburn reaction and mild neurological disorders. Blood samples were collected from two affected siblings after written informed consent. As all mutations reported in Tunisia have been excluded using Sanger sequencing, we carried out mutational analysis through a targeted panel of gene sequencing using the Agilent HaloPlex target enrichment system. Our clinical study shows, in both patients, the presence of achromic macula in sun exposed area with dermatological feature suggestive of Xeroderma pigmentosum disease. No developmental and neurological disorders were observed except mild intellectual disability. Genetic investigation shows that both patients were carriers of an homozygous T to C transition at the nucleotide position c.2333, causing the leucine to proline amino acid change at the position 778 (p.Leu778Pro) of the ERCC5 gene, and resulting in an XP-G phenotype. The same variation was previously reported at the heterozygous state in a patient cell line in Europe, for which no clinical data were available and was suggested to confer an XP/CS phenotype based on functional tests. This study contributes to further characterization of the mutation spectrum of XP in consanguineous Tunisian families and is potentially helpful for early diagnosis. It also indicates that the genotype-phenotype correlation is not always coherent for patients with mild clinical features. These data therefore suggest that targeted NGS is a highly informative diagnostic strategy, which can be used for XP molecular etiology determination.