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Sarcoidosis can present with necrotizing granulomas histologically: two cases of ulcerated sarcoidosis and review of the literature. Specific lesions commonly present as reddish-brown infiltrated papules or plaques.2,3 Ulcerated and atrophic lesions are rare, seen worldwide in only 5% of patients with CS.4 Ulceration may arise de novo or in preexisting lesions. Dear Editor, Sarcoidosis is an inflammatory granulomatous disease of unknown etiology. [Extracted from the article]

Cutaneous mastocytosis in infancy commonly includes urticarial pigmentosa, diffuse cutaneous mastocytosis (DCM), and solitary or multiple mastocytoma of the skin.1 A 5-year-old girl with no previous medical history presented with a 4-year history of itchy yellow-brownish plaques located on the face and the trunk. Mastocytosis is defined as an overproliferation of tissue mast cells. Figure 2c: Positive Darier sign. gl Xanthelasmoid mastocytosis is a rare variant of diffuse cutaneous mastocytosis. [Extracted from the article]

Xeroderma pigmentosum Variant (XP-V) formis characterized by a late onset of skin symptoms. Our aimis the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that thismutation POLH NG 009252.1: g.36847 40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-Vpatients. In Tunisia, the prevalence of XP-Vgroup seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa [ABSTRACT FROM AUTHOR]

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease. [ABSTRACT FROM AUTHOR]

Erythema nodosum (EN) in association with kerion celsi is a rare condition in children, with only 11 cases having been reported in the English literature. We describe a new case in a 7-year-old boy in whom the disorder had begun 2 months before. He had many inflamed, boggy, suppurative nodules over the left occipitoparietal area of the scalp and, 2 weeks later, developed multiple painful, erythematous subcutaneous nodules of the shins, thighs, and upper limbs. EN was confirmed by histologic examination. Our review of the literature of all cases of EN during kerion showed that it usually occurs at or slightly after the height of infection or after drug introduction. Trichophyton mentagrophytes was involved in the majority of cases, and improvement of EN usually occurs with griseofulvin. [ABSTRACT FROM AUTHOR]

The article focuses on the case of a Tunisian patient with mild clinical phenotype that may be possibly identified as xeroderma pigmentosum variant (XP-V). It presents molecular and genetic analyses of POLH gene in the patient. It says that genetic mutations have been screened through direct exon sequencing of the POLH gene. It mentions that POHL gene linkage was performed through informative microsatellite markers.

A quiz concerning the diagnosis for the case of a 49-year-old man with tripe palms, digital clubbing, and Jaccoud's-type arthropathy is presented.

Darier’s disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehead). Pathogenic mutations in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) 2 gene underlie the disease. In the present study, we performed genetic investigation of three unrelated Tunisian families affected by DD. Mutation screening was performed by direct sequencing of the coding region and exon/intron boundaries of the ATP2A2 gene. Patients in the 3 studied families exhibited classical DD phenotype. DD was associated with neurological and cardiac disorders in one family. Two novel mutations were identified: a missense mutation (R559Q) and a frameshift mutation (1713-1714 del 2A). Both pathogenic mutations are located in exon 13 of the ATP2A2 gene and affected the ATP-binding site of the SERCA2 protein. In one family, no mutation was found within the coding region and exon/intron boundaries of the ATP2A2 gene. Our findings provide further evidence for the genetic heterogeneity of DD in Tunisia and that most mutations involved in this disease are family specific. [ABSTRACT FROM AUTHOR]

We highlight the importance of a thorough nail examination in every clinical encounter, especially in uremic patients. Absent lunula should prompt the clinician to rule out underlying kidney disease even in the absence of signs of uremia. [ABSTRACT FROM AUTHOR]

Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS ( component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene. [ABSTRACT FROM AUTHOR]

To accurately quantify the different outcomes of Leishmania major infection and to evaluate the fraction of zoonotic cutaneous leishmaniasis (ZCL) cases prevented by naturally acquired leishmanin skin test (LST) reactivity, a cohort of 470 children was followed up in 2 endemic foci, Remada and Dhiba, in southern Tunisia. During May 1997, before the ZCL emergence season, LST was performed, and results were reassessed 12 months later. Active case detection during the ZCL emergence season showed a high incidence of ZCL: 57.0% in Remada and 13.7% in Dhiba. The preventive fraction of ZCL conferred by LST reactivity increased proportionally with the reaction size before the emergence season, revealing a dose-response effect of ∼70%. In addition, asymptomatic L. major infection appeared to be a significant form of natural immunization, particularly in the context of relatively low transmission. These findings may help in the design and evaluation of vaccines. [ABSTRACT FROM AUTHOR]

The article presents a case study of a consanguineous family in Ben Ghazi, Libya which was presented to a laboratory in Tunisia due to a clinical diagnosis of Mal de Meleda (MDM) disease. MDM is a rare autosomal recessive palmoplantar keratoderma (PPK). In the study, the family was diagnosed to have the p.G86R mutation of MDM.

The article discusses the results of a study on how FOXP3 transcription is enhanced in the lesional and perilesional skin of patients with focal Alopecia areata (AA). Topics covered include how the analysis of FOXP3 transcription did not indicate any in situ quantitative defect of Tregs and how the findings of the study confirm the absence of a quantitative and functional defect of Tregs in focal AA.

The article discusses research which examined the seroprevalence of human herpesvirus (HHV)-8 and hepatitis B (HBV) and hepatitis C (HCV) infections in patients with pemphigus. An overview of the study methodology is presented. Findings demonstrated a lack of association of HHV-8 infection with pemphigus.

The article presents a case study of an immunocompetent woman diagnosed with tinea capitis favosa (TCF). The patient's examination showed extensive alopecia with discolored scalp other than crusted plaques and extensive scaling. She received oral treatment with ciclopiroxolamine. Her TCF diagnosis because of Trichophyton schoenleinii was also evaluated.

A quiz concerning the diagnosis for a 42-year-old woman with progressive lax skin, joint pain, and dysphonia is presented.

Psoriasis pathogenisis remain unknown despite the fact that it is considered as the most common autoimmune skin disease. We raised the hypothesis whether the selected biomarkers in this study provide actual evidence of psoriasis presence and severity. We aim in a first level to study serum level of pro-angiogenic marker VEGF variation and its correlation with MMP-9 and its specific inhibitor TIMP-2 in psoriatic patients serum. The study included 115 psoriatic patients and 51 controls. The biological parameters were measured by ELISA methods. Logistic regression analysis showed that VEGF, MMP-9, and inflammation Z-score are associated with psoriasis. ROC analysis showed that VEGF has low discriminant power for PsVG, However TIMP-2 and inflammation Z-scorewell discriminate this variant of psoriasis. The combined analysis of VEGF-TIMP-2 resulted in a significant increase in discriminant power for PsVG. Increase inflammatory phase may be reflecting the tissue destruction byMMP-9, emphasizing the deleterious expanse and the architectural changes of the skin which are more severe in PsP. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to an article on the prevalence of autoantibodies in patients who are suffering from pemphigus, an autoimmune blistering skin.

Background: A recent study detected cutaneous leishmaniasis (CL) in 31.9% of persons with skin ulcers in the Oti Region of Ghana, resulting in a need to investigate other potential causes of the unexplained skin ulcers. Methodology/Principal findings: A community based cross-sectional study was conducted in the Oti region to investigate skin ulcers of undetermined aetiologies. To confirm a diagnosis of cutaneous leishmaniasis, Buruli ulcer, Haemophilus ducreyi ulcers, or yaws, DNA obtained from each patient skin ulcer sample was systematically subjected to polymerase chain reaction (PCR) for Leishmania spp., Mycobacterium ulcerans, Haemophilus ducreyi, and Treponema pallidum sub species pertenue. A total of 101 skin ulcer samples were obtained from 101 persons. Co-infection of more than one organism was observed in 68.3% of the samples. Forty (39.6%) participants had a positive result for Leishmania spp., 68 (67.3%) for Treponema pallidum sub. Sp. pertenue, and 74 (73.3%) for H. ducreyi. Twenty (19.8%) of the patient ulcers were simultaneously infected with Leishmania spp., Treponema pallidum sub. Sp. pertenue, and H. ducreyi. None of the patients' lesions yielded a positive result for Mycobacterium ulcerans. Conclusions/Significance: This study detected single and mixed occurrence of the causative organisms of CL, yaws, and H. ducreyi cutaneous ulcers in CL endemic communities of the Oti Region in Ghana. These findings emphasize the importance of integrating multiple skin diseases on a common research platform and calls for the development of a comprehensive guideline for diagnosing and treating tropical ulcers in the study areas. [ABSTRACT FROM AUTHOR]

Dermatomyositis (DM) is a rare inflammatory autoimmune disease for which an iatrogenic origin has been described in a few cases. The authors report a case of DM occurring after simvastatin intake. [ABSTRACT FROM AUTHOR]

Becker's nevus syndrome is defined by the association of a Becker nevus with homolateral breast hypoplasia or more rarely skeletal cutaneous or muscle deformities. Early diagnosis is important, especially in female patients to prevent and treat breast hypoplasia. We report two cases of Becker nevus syndrome with serious functional impairment and discuss possible treatment options. [ABSTRACT FROM AUTHOR]

The article discusses the rare occurrence of tinea capitis of the eyebrows, primarily caused by Microsporum canis. Trichoscopy is highlighted as a noninvasive tool that aids in diagnosing this condition. The study describes trichoscopic findings in four pediatric patients with tinea capitis of the eyebrows, emphasizing the importance of accurate diagnosis and treatment. The authors stress the significance of trichoscopy in differentiating tinea capitis from other dermatological conditions and recommend mycological culture as the gold standard for diagnosis. [Extracted from the article]