Background: Peripheral nerve disease may lead to physical disability because of decreased muscle strength and/or loss of sensitivity in the dermatomes of affected peripheral nerves. Both human immunodeficiency virus (HIV)- and leprosy-affected patients can develop neurological damage; therefore, the coinfection of these diseases presents new challenges to the health care of these patients. Aims and Objective: This study aimed to investigate the motor alterations of patients coinfected with HIV and leprosy and their relationship with clinical and anthropometric characteristics, compared with individuals with isolated diseases. Materials and Methods: In this cross-sectional study, 90 individuals were divided equally into three groups: HIV/acquired immunodeficiency syndrome (AIDS) group, leprosy group and HIV/leprosy group. All individuals underwent an evaluation of muscle strength and upper limb endurance adjusted for the Brazilian standards, a palm print pressure test using a digital dynamometer and anthropometric measurements (weight, height and skin folds). Results: The HIV/leprosy group had the highest mean body mass index, followed by the leprosy group and the HIV/AIDS group. Skinfolds were similar between the groups. Multiple linear regression, adjusted for sex and age, revealed the coinfection of HIV and leprosy as possible contributor to a worse prognosis of muscle function, highlighting the bilateral reduction in the levels of palm print compression strengths compared with isolated diseases (HIV and leprosy). High CD4 count and shorter antiretroviral therapy duration were associated with worse indices of muscle strength, such as gripping and resistance, in coinfected patients. Conclusion: Patients coinfected with HIV and leprosy exhibited greater motor damage than those with isolated diseases. Thus, motor damage may be related to the sum of the neurological manifestations of the two morbidities.

Background: Mutations in the filaggrin (FLG) gene has been reported to be an indicator of poor prognosis of atopic dermatitis (AD). It has been reported that there is a considerable variation in the mutations detected in the FLG gene in different ethnicities. Aim: To detect the presence of mutations in the FLG gene in pediatric subjects with atopic dermatitis (AD) and to compare the detected mutations with those already reported from different ethnicities. Materials and Methods: Genomic DNA extracted using standard procedure from peripheral venous blood of 30 patient and 15 control samples. Sequence analysis of the FLG gene carried out and detected changes was then cross referenced with those mutations already reported to check for novelty of detected changes. Results: Amino acid changes were detected in 28 of the patient samples and in none of the control samples indicating that changes in the FLG gene were more common in the patient group than the control group (Fishers exact test, P < 0.0001). The most commonly reported mutations R501X and 2282del4 were not detected. Only 5 of the detected 22 amino acid changes H2507Q, L2481S, K2444E, E2398Q, and S2366T have been previously reported and are not clinically significant; however, in one patient a stop codon was detected (S2366STOP). P2238N, R2239W, and V2243L detected in 70% of the samples and S2231E detected in 67% of the patient samples have not been reported so far and their clinical significance is yet to be analyzed. Conclusion: Analyses of mutations already reported showed that the changes detected from this study are novel to Indian traits. While this adds on to the minimal data available from the Indian subcontinent further analyses has to be carried out to analyze the pathogenicity of these detected changes on larger samples sizes.

Background: Hidradenitis suppurativa (HS) is a complex, chronic inflammatory skin disorder whose pathophysiology is poorly understood. Genetic studies have shown that HS is predisposed by mutations in the γ-secretase gene, but only a proportion of familial and partial sporadic cases have been shown to possess such mutations. HS has high genetic heterogeneity and is thought to be triggered by a combination of genetics and environmental factors. Aims: The study aimed to investigate the genetic causes of HS in a large cohort of patients and to update the mutation spectrum of γ-secretase complex genes. Methods: We conducted mutational screening of 95 sporadic HS cases and one large family with both HS and acne conglobata (AC) to identify mutations in the coding and splice junction region of γ-secretase complex genes (nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN), and aph-1 homolog B, gamma-secretase subunit (APH1B)). Results: Our study identified a nucleotide substitution of 1876C>T in the NCSTN gene, which caused a stop codon (p.Arg626X) in the affected members of a large family with HS and AC. No pathogenic variants were detected in 95 sporadic cases of HS, indicating there is possible genetic heterogeneity. Conclusion: We report a new family with a nonsense mutation in the NCSTN gene that supports the role of the γ-secretase complex genes in HS with AC. The updated γ-secretase mutation spectrum for HS now includes 78 mutations.

Background: Despite the excellent clinical efficacy of oral propranolol in the management of infantile haemangiomas (IHs), there is a need to further evaluate other beta blockers that may be equally efficacious but result in lesser adverse effects. We compared the efficacy and short-term safety of atenolol, a hydrophilic cardio-selective beta blocker, with propranolol, in the treatment of IHs. Materials and Methods: Sixty patients with complicated and/or cosmetically significant IHs were randomised into two groups, oral propranolol group (2 mg/kg/day) and the oral atenolol (1 mg/kg/day) group, respectively, for 9 months. Patients were assessed clinically, by the use of Doppler ultrasonography (USG) and measurement of serum hypoxia-inducible factor 1 alpha (HIF-1α). Results: Twenty-two of 30 patients achieved complete clearance in the propranolol group (0.73; 95% CI = 0.54 to 0.87) compared with 13 of 25 patients in the atenolol group (0.52; 95% CI = 0.31 to 0.72). The mean time to achieve Physician Global Assessment Score 5 (PGA5) (25.00 ± 8.87 weeks) was significantly lesser in the propranolol group versus the atenolol group (31.69 ± 7.01 weeks; log-rank = 0.04). The two groups were comparable in terms of adverse effect profile, degree of volume reduction in USG and reduction in HIF-1α levels. Conclusions: Propranolol (2 mg/kg/day) is better than atenolol (1 mg/kg/day) in inducing complete clinical clearance of IH although the results need to be reproduced in larger studies. ClinicalTrials.gov Identifier: NCT03237637

Nuclear factor of activated T-cells, cytoplasmic 4 (NFATC4) has been implicated in keratinocyte development and several types of cancer. A well-defined role for NFATC4 in cutaneous squamous cell carcinoma (CSCC) has not yet been established. In this study, NFATC4 gene function in CSCC development was examined. Quantitative reverse transcription polymerase chain reaction (RT-qPCR) was used to measure the mRNA expression of NFATC4 in CSCC tissues and controls. A431 and Colo16 cell proliferation, invasion, and apoptosis were measured by CCK-8 assay, transwell invasion, and flow cytometry, respectively, after an NFATC4 expression lentivirus infection. Animal models were applied to validate the function of the NFATC4 gene. (1) CSCC tissues showed a significant decrease in NFATC4 expression compared to controls. (2) Overexpression of NFATc4 suppresses A431 and Colo16 cell proliferation and invasion but promotes cell apoptosis. (3) Mouse models overexpressing NFATC4 showed reduced tumourigenesis. It was suggested that NFATC4 might be a tumour suppressor gene in CSCC.

Plaque Psoriasis (PP) and periodontitis are inflammatory disorders with a bidirectional association. They both have a qualitatively similar immune-modulatory cascade, cytokine profile, and a recently described dysbiosis. Different oral bacterial species compositions in the periodontal pocket might play a role in the development of PP. To describe the subgingival microbiota of the Mexican population with PP and the periodontal conditions. Subjects were divided into two groups: periodontal health (PH) (PH-non-PP, PH-PP) and periodontitis (PD) (P-non-PP, PD-PP). Following clinical examination, the patients were classified into three groups according to the degree of psoriasis as measured by the Psoriasis Area Severity Index (PASI) and the periodontal status according to the parameters of the American Academy of Periodontology (AAP). Subgingival microbiota samples of each patient were used to determine 40 species of periodontal bacteria by checkerboard DNA-DNA hybridization. IL-2 and IL-6 were measured by ELISA. Of the forty-eight patients with PP, 21 patients had PH and 27 patients had PD. PD-PP group has a significant increase in the percentage of plaque, gingival redness, pocket probing depth, and clinical attachment loss (P<0.001) compared to PH-PP group. Microbiologically PD-PP exhibited significantly higher mean counts for A. georgiae, A. israelii, A. naeslundii from blue complex (P<0.001) than PD-non-PP. Moreover, the counts of these Actinomyces in PD-PP increased according to the severity of index PASI. The concentration of IL-2 and IL-6 were increased in saliva from PH-PP and PD-PP patients compared to PH non-PP. PP individuals harbored a particular sub-gingival microbiota profile different from non-PP. The severity of psoriasis was related to dysbiosis of microbiota —PASI > 5 related to periodontitis with the predominance of Actinomyces periodontal, irrespective of their periodontal condition. Finally, the severity of psoriasis could be unbalanced in subgingival microbiota and increase the risk to develop periodontitis.

Background: This study aims to investigate the anti-inflammatory effects of cinnamaldehyde in atopic dermatitis (AD) in the mouse model. Materials and Methods: Twenty-four mice were divided into four groups: Group A (control), group B [AD with no treatment (AD + NoTre)], group C [AD with corticosteroids (AD + Cort)] and group D [AD with cinnamaldehyde (AD + Cin)]. 2,4-dinitrofluorobenzene was used to form the AD model. Topical corticosteroid was applied to group C, and oral cinnamaldehyde was administered to group D. Dorsal skin biopsies were evaluated immunohistochemically with interleukin (IL)-25, IL-33, thymic stromal lymphopoietin and caspase-3. Results: Epithelial thicknesses were significantly higher in group B–D mice compared to group A (P = 0.002, 0.009, 0.004, respectively). Significantly, higher staining with IL-25 was observed in group B (AD + NoTre) and group D (AD + Cin) than in group A (control) (P = 0.003, 0.002, respectively). However, no significant difference was observed between group D (AD + Cin) and group B (AD + NoTre). All three groups (B–D) had significantly higher staining in terms of diffuseness of IL-33 compared to group A (control) (P = 0.002, 0.002, 0.002, respectively). Caspase-3 staining was significantly lower in group D (AD + Cin) than in group B (AD + NoTre) (P = 0.003, 0.002, respectively). Moreover, caspase-3 staining intensity was significantly lower in group D (AD + Cin) than in group C (AD + Cort) (P = 0.002). Conclusions: Our study demonstrated that IL-33, IL-25 and caspase-3 have a role in the pathogenesis of AD. Furthermore, cinnamaldehyde reduced caspase-3 activity more than topical corticosteroids and anti-inflammatory effects might be investigated in AD therapy with future studies.

Melasma, a chronic pigmentary skin condition mainly affecting the face, remains a challenge despite the availability of several options for treatment. Many melasma patients are not satisfied with treatment outcomes. Tranexamic acid (TXA), an anti-fibrinolytic drug has shown promising results in patients with melasma. Evidence from several clinical studies has surfaced on efficacy and tolerability of TXA in these patients. It can be used as monotherapy or adjuvant with other therapies. Currently, there is no published consensus or guideline document for its use in the treatment of melasma. TXA is available for oral use, topical use as well as an injection. In this article, a consensus of Indian experts is prepared based on the available literature and experience with use of oral TXA in melasma. This review article might help clinicians for use of oral TXA appropriately while treating melasma.

Antibody-based therapies that inhibit pro-inflammatory cytokine signalling are commonly used in dermatology. Paradoxically, these biological agents may induce or exacerbate paradoxical reactions. Recently, it has been reported that the treatment of eczema with dupilumab can lead to the development of psoriasiform eruptions, which we called psoriasiform paradoxical reactions (P-PRs). Conversely, cases of eczematous paradoxical reactions (E-PRs) have also been described in patients with psoriasis treated with biologics. To summarise the case characteristics and disease features of phenotypic transition between psoriasis and eczematoid dermatitis, and to explore the mechanism or connection related to biological agents or patients' genetic characteristics, a systematic review was conducted for P-PRs in atopic dermatitis and E-PRs in patients with psoriasis treated with corresponding biological agents, respectively. We identified a series of P-PRs in 42 atopic dermatitis cases treated with dupilumab. The time to onset of P-PRs typically ranged from weeks to months, with a mean latency period of 22.65 weeks. Almost all patients presented with new-onset P-PRs. Simultaneously, we reviewed 22 articles reporting 51 patients with psoriasis with biological agent-induced E-PRs, which occurred on average at 24.47 weeks, 72.55% of them induced by IL-17A inhibitors. 48.98% (24/49) of cases reported a positive personal history of atopy, which may suggest an increased risk of biological agent-induced paradoxical eruptions. Overall, the improvement or resolution upon discontinuation of the inciting biologics was relatively common, and further studies are needed to estimate the real prevalence and unveil the pathophysiological mechanisms of these paradoxical events.

Introduction: Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of “silvery hair syndromes” which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome. Hair light microscopy helps in the differentiation of GS and CHS, as both manifest with clinical features. Trichoscopy is useful in the diagnosis of many hair shaft disorders. Here, authors describe the trichoscopic features of GS in skin of color. Materials and Methods: This was an observational study conducted in a private dermatology clinic and in a tertiary care hospital. A total of 5 cases of suspected GS were referred by pediatrician. Consent was obtained. The demographic data in terms of age, gender, consanguinity, and clinical history was documented. Trichoscopic examination was performed with FotoFinder videodermoscope with 20× magnification, the clinical images were captured with Medicam 1000. Trichoscopy showed large and irregular pigment clumps in 4 cases. One case demonstrated hypopigmentation of hair without pigment clumps [Figure 3]a. Results: Trichoscopy showed large and irregular pigment clumps in 4 cases. One case demonstrated hypopigmentation of hair without pigment clumps. Conclusion: Trichoscopy shows characteristic features GS. It is a useful method when facility for light or polarized microscope is unavailable.

Background: Various diagnostic tools are used to assess cutaneous psoriasis, but most of it were subjective. Sympathetic skin response (SSR), skin PH and temperature objectively measure the skin barrier functions that could aid clinicians to evaluate accurately and predict skin disease incidence even before the onset of clinical symptoms. Aim and Objectives: The study's objective was to assess the utility of cutaneous parameters (skin temperature and pH) and SSRs influencing psoriatic patients' diagnosis management and treatment compared to controls. Materials and Methods: A total of 40 healthy participants and 40 psoriasis patients aged 18 to 65 years were recruited for this study. SSR, skin temperature and pH were assessed. The psoriasis disability index (PDI) was recorded from all the patients. Data analysis was carried out using SPSS version 20.0. Results: The results shows significantly increased skin temperature, prolonged SSR latency (bilaterally) and decreased SSR amplitude (bilaterally) among patients affected with psoriasis compared to control subjects. There is a positive correlation between SSR latency with PDI and a negative correlation between SSR amplitude and PDI in psoriasis patients. Conclusion: SSR reveals sympathetic sudomotor dysfunction and increased skin temperature in psoriasis. Furthermore, there is a link between increased SSR latency and PDI, which shows that local nervous system impairment significantly contributes to the inflammatory process in psoriasis. Thus, SSR can be used as a complementary tool for the early identification and assessment of epidermal barrier integrity in psoriasis patients, along with the clinician's standard protocols.

Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body. This is an Autosomal dominant disease with damages in two suppressor genes namely TSC1 and TSC2 located on chromosome 9 (9q34-hamartin) and chromosome 16 (16p13.3-tuberin). It is a lifelong disease with neurological manifestations, for example, epilepsy, mental retardation and autism and major dermatological features like facial fibromas (adenoma sebaceum), periungual fibromas, shagreen patches and hypopigmented macules. Some conditions, for example, autosomal dominant polycystic kidney disease can co-exist with TSC as a result of concurrent deletion of both polycystic kidney disease 1 and TSC2 genes present on chromosome 16p13.3. We present a cluster of three families with TSC having varied presentations.

Becker's naevus also known as Becker's melanosis (BM) or pigmented hairy epidermal naevus is a cutaneous hamartoma with brown hyperpigmentation and hypertrichosis. It commonly occurs during adolescence and rarely at birth. It usually affects young post-pubertal males and has a prevalence of 0.5%. A naevus usually consists of a circumscribed, unilateral, irregularly shaped, hyperpigmented spot usually located around the anterior upper body, with or without hypertrichosis and/or acneiform lesions. Sometimes developmental abnormalities can occur with Becker's naevus, which is called Becker's naevus syndrome (BNS). Becker's naevus was of atypical presentation in two patients over the forearm and leg. Hence, these case reports gain importance.

Context: Autoimmune blistering (AIBD) disorders affect mucosae, skin, and appendages. Appendageal involvement has not been studied extensively to date. However, they are important as nail changes are commonly encountered during a flare-up of the disease. Aims: To determine the prevalence and patterns of nail changes in various Immunobullous disorders and to study the relationship between the nail changes and the disease duration and severity. Settings and Design: A cross-sectional study was conducted at the Department of Dermatology, venerology, and leprosy at a tertiary care center in Mumbai. Materials and Methods: A cross-sectional study including a total of 74 cases of Immunobullous diseases was conducted and the prevalence of nail changes was determined. The association between the mean number of nail changes and the disease duration and severity was analyzed using ANOVA (Analysis of variance) and unpaired t-test. Statistical Analysis: The Statistical Package for Social Studies (SPSS) software was used for statistical evaluation. Results: We found that the prevalence of nail changes was 91%. There was a significant difference in the mean number of nail changes with respect to the severity grades of mucosal involvement in AIBD (P value < 0.05). There was no significant difference in the mean number of nail changes with respect to the severity grades of Pemphigus vulgaris (PV), Pemphigus foliaceous (PF), subepidermal blistering diseases, and the duration of AIBD. Conclusions: Nails are frequently affected in AIBD. The number of nail changes is related to the severity of mucosal disease but not to duration.

Background: Apolipoprotein E (APOE) gene isoforms have been found to affect the risk of superficial fungal infections (SFIs). However, the data only cover a few ethnicities. Aims: The present work intended to investigate the association of APOE gene polymorphism and serum lipids with the susceptibility of SFIs among a group of Egyptian patients. Materials and Methods: Standard laboratory methods were used to estimate the serum lipid profile, and polymerase chain reaction–restriction fragment length polymorphism was used to detect APOE gene polymorphism in deoxyribonucleic acid extracted from 150 SFI patients and an equal number of apparently healthy matched controls. Results: Serum total cholesterol, triglycerides, and low-density lipoprotein cholesterol were significantly higher in the studied patients than in controls. The APOE gene ε2, ε4 alleles, and ε3/4 and ε3/2 genotypes were significantly distributed in the patients than in the controls. APOE ε3/3 genotype was predominant in dermatophytosis and tinea versicolour patients, and ε3/4 genotype was predominant in candidiasis. Conclusions: ApoE alleles ε2 and ε4, and genotypes ε2/3 and ε3/4 are linked to SFI and may be risk factors, whereas allele ε3 and genotype ε3/3 may be protective for SFI in the Egyptian population studied. The lipid profile results suggest that hyperlipidemia may provide evidence for SFI pathogenesis. However; further large-scale studies are still needed to validate our results.

Background: Basal cell carcinoma (BCC) is the most common cutaneous malignancy. In most cases, BCC can be diagnosed by its characteristic histopathological features. The differential diagnosis includes basaloid squamous cell carcinoma (SqCC) and adnexal tumours of follicular differentiation. Cluster of differentiation 10 (CD10) and name of an immunostain (BerEP4) are reported to be useful in differentiating between them. Objectives: The primary objective was to compare the expression of BerEP4 and CD10 in BCC with that of SqCC and adnexal tumours of follicular differentiation, and the secondary objective was to evaluate the proportion of different histological subtypes of BCC. Materials and Methods: Twenty-eight cases of BCCs, 34 cases of SqCCs and 16 adnexal tumours of follicular differentiation received in the institution during the study period January 2017 to June 2018 were included in this descriptive study. Immunostaining with CD10 and BerEP4 was performed, and the staining pattern was studied in all 78 cases. A detailed histopathological evaluation including subtyping was carried out for BCC cases. Results: All BCCs showed positivity with CD10 and BerEP4, but the intensity and pattern varied. Squamous cell carcinomas were completely negative for BerEP4 and CD10 in tumour cells, and 25 of 34 cases showed stromal CD10 positivity. Among adnexal tumours of follicular differentiation, proliferating trichilemmal tumour was completely negative for both markers; other adnexal tumours (n = 11/16) showed peritumoral stromal accentuation for CD10, and nine of 11 cases showed BerEP4 tumour cell positivity (P < 0.001). Conclusion: BerEP4 can reliably detect BCCs of all types and distinguish between BCC and SqCC, but it is unable to do so for adnexal tumours such as trichoepithelioma, trichilemmoma and trichoblastoma. CD10 is a useful adjunct marker in distinguishing both trichoepithelioma (TE) and SqCC from BCC. CD10-positive tumour cells favour a diagnosis of BCC and peritumoral stromal accentuation for trichoblastoma (TB) and trichilemmoma (TL). Tumour cells in SqCC are almost always negative for CD10. A combined immunohistochemistry (IHC) panel of CD10 and BerEP4 can serve as a very reliable adjunctive in the diagnosis of BCC.

Background: Acne vulgaris (AV) is a chronic, multifactorial, inflammatory skin disease, and it is now becoming increasingly clear that the inflammatory pathway is involved at a very early in the pathogenesis of acne. The Th17 cells, the activators of this cell line and its downstream effector cytokines, are all likely to have a critical role in inducing and maintaining the disease. Aim: To analyse the role of interleukins (ILs) 6, 8, 17 and 22 in the pathogenesis of acne. Materials and Methods: Sixty patients of AV and thirty age- and sex-matched controls were included in our study. Serum levels of interleukins 6, 8, 17 and 22 were determined using an enzyme-linked immunosorbent assay (ELISA), and thereafter, levels were correlated with the severity of acne. Result: Serum levels of IL-6, IL-8, IL-17 and IL-22 were 0.15 ± 0.0174 pg/ml, 0.38 ± 0.080 pg/ml, 0.19 ± 0.0075 pg/ml and 0.23 ± 0.0152 pg/ml in cases, respectively, and 0.13 ± 0.0095 pg/ml, 0.14 ± 0.034 pg/ml, 0.13 ± 0.0033 pg/ml and 0.21 ± 0.0099 pg/ml in controls, respectively. The difference in levels between cases and controls was significant for IL-8 and IL-17, while for IL-6 and IL-22 the difference was insignificant. There was a highly significant positive correlation between IL-8 and IL-17 levels. IL-6 and IL-8 showed a significant positive correlation with the severity of disease. Conclusion: IL-8 and IL-17 play a critical effector role in the pathogenesis of AV. IL-6-stimulated Th17 cells are likely the major producers of IL-8 in acne lesions.

Background: Dermatophytosis have assumed epidemic proportions in India. Antifungal drug resistance solely cannot explain disease magnitude and changing epidemiology. Objectives: Aim of this study was to analyse clinical-mycological aspects of dermatophytosis, and estimate contribution of drug resistance in clinical recalcitrance. Methods: This single-centre observational, cross-sectional, descriptive study was done in tertiary centre of western India after ethical approval, enrolling dermatophytosis patients of all ages and sex. After history and examination, KOH mount and culture in modified SDA medium was done. Culture positive isolates were subjected to E-strip antifungal susceptibility method to test MIC for Terbinafine, Itraconazole, Fluconazole and Griseofulvin. Results: Total 300 patients were included, with mean age of 33.83±27.5 years and male-to-female ratio of 1.22:1; tinea corporis et cruris being commonest, 39.33% (n=118). Only 11.67% (n=35) were treatment naïve, having classical annular morphology. History of topical steroid abuse was found in 81.67% (n=245), with pseudoimbricate lesions in 70.61% (n=173). 86.67% (n=260) had KOH positivity while 83.33% (n=250) had culture positivity: Trichophyton mentagrophytes 45.6% (n=114), followed by Trichophyton rubrum in 34.4% (n=86). A total of 265 patients fit into definition of recalcitrance, from which 12.45%, i.e., 33 isolates showed in-vitro fluconazole resistance. 14.33% (n=43) cases were chronic, 37% (n=111) persistent, 46% (n=138) recurrent while 17% (n=51) had relapse in their disease course. Steroid abuse was the commonest denominator. Conclusion: Role of antifungal resistance in recalcitrant dermatophytosis remains debatable. Stopping steroid abuse, which is often the commonest culprit, with adherence to standard antifungal therapy remains the paradigm in management.