Resumo em Inglês:

Abstract Cutaneous metastases from solid tumors are uncommon events in clinical practice. Most of the time, the patient already has the diagnosis of a malignant neoplasm when the cutaneous metastasis is detected. However, in up to one-third of cases, cutaneous metastasis is identified before the primary tumor. Therefore, its identification may be essential for starting treatment, although it is usually indicative of poor prognosis. The diagnosis will depend on clinical, histopathological, and immunohistochemical analysis. Sometimes the identification of the primary site is difficult; however, a thorough analysis using imaging tests and constant surveillance is important.

Resumo em Inglês:

Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

Resumo em Inglês:

Abstract Background Bleomycin is a chemotherapeutical drug used to treat several neoplasias, including non-melanoma skin cancer; it is effective in the treatment of basal cell carcinoma (BCC) via intralesional infiltration. Transdermal drug delivery, which includes technologies such as CO2 Laser, Dermapen, Dermaroller and MMP®, delivers the desired medication to treat skin neoplasias and also acts in skin rejuvenation. Objective To treat BCC lesions using bleomycin via MMP®. Methods Ninety-eight BCC lesions in different anatomical areas were treated using MMP® technology to administer and uniformly distribute bleomycin throughout the lesion and in the established safety margin. Results The cure rate after six months was 96.94%; and recurrences were not associated with lesion size and/or depth. Adverse effects were the expected ones. Study limitations The follow-up time was only six months. Conclusion This therapeutic route showed to be promising and effective.

Resumo em Inglês:

Abstract Background Psoriasis is a chronic inflammatory disease that is associated with many inflammatory conditions such as atherosclerosis, hypertension, among others. SCUBE-1 is a protein that plays a role in angiogenesis. Objectives The present study aimed to investigate whether SCUBE-1 could indicate subclinical atherosclerosis in psoriatic patients, and to compare SCUBE-1 levels, measurement of carotid artery ıntima-media thickness (CIMT), and metabolic parameters in psoriasis patients and healthy controls. Methods Forty-six patients with psoriasis and 43 healthy controls were included. The severity of the disease was assessed with Psoriasis Area Severity Index (PASI) in the patient group. Levels of SCUBE-1, CRP, lipids, and fasting glucose were measured with the enzyme-linked ımmunosorbent assay (ELISA) method, and CIMT measurements were performed by the same cardiologist. Results SCUBE-1 levels and CIMT values were significantly higher in the patient group (for both p < 0.05). Moreover, systolic blood pressure, CRP levels, and waist circumference were higher in the patient group even though both groups had similar BMIs (for all p < 0.05). A positive correlation was found between SCUBE-1 and CIMT values among patients, and multiple regression analyses revealed that SCUBE-1 and CIMT are significantly associated with psoriasis as well. Study limitations A low number of participants and not including any other inflammatory marker related to angiogenesis or atherosclerosis such as VEGF, adiponectin are the main limitations of the present study. Conclusion Despite the severity of the disease, even in psoriasis patients with mild disease the SCUBE-1 level may be an indicator of subclinical atherosclerosis and indicate the risk of cardiovascular disease in the future.

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Abstract Background Leprosy is an infectious and contagious disease caused by Mycobacterium leprae and is mainly characterized by lesions in the skin and peripheral nerves. In Brazil, it is a public health problem due to its high endemicity. However, the state of Rio Grande do Sul presents low endemicity of this disease. Objective To characterize the epidemiological profile of leprosy in the state of Rio Grande do Sul from 2000 to 2019. Methods This was a retrospective observational study. Epidemiological data were collected from the Notifiable Diseases Information System (SINAN, Sistema de Informação de Agravos de Notificação). Results Among the 497 municipalities in the state, 357 (71.8%) registered cases of leprosy in the assessed period, with an average of 212 (81.5%) new cases per year. The average detection rate was 1.61 new cases per 100,000 inhabitants. The male sex was predominant (51.9%) and the mean age was 50.4 years. Regarding the epidemiological clinical profile; 79.0% of the patients were multibacillary; 37.5% presented the borderline clinical form; 16% had grade 2 physical disability at diagnosis and bacilloscopy was positive in 35.4% of cases. As for treatment, 73.8% of the cases were treated with the standard multibacillary therapeutic regimen. Study limitations There were missing/inconsistent data in the database available. Conclusions The findings observed in this study indicate that the state presents a low endemicity profile of the disease and these results can support adequate health policies relevant to the reality of Rio Grande do Sul, inserted in a national scenario of highly endemic leprosy.

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Abstract Background The incidence and mortality of melanoma have increased in the last years in the Caucasian population. This 40-year study of melanoma incidence in Blumenau-SC shows the impact of primary prevention on the decrease of mortality. Objectives To classify cutaneous melanomas and evaluate their incidence in Blumenau from 1980 to 2019. Methodology This retrospective, descriptive and cross-sectional study collected 2,336 histopathological examinations of individuals living in the city, considering sex, age, primary location, histopathological type, invasion level (Clark), and tumor thickness (Breslow). The crude coefficients of annual incidence rates were calculated using the number of melanomas and the population estimated by the Brazilian Institute of Geography and Statistics between 1980 and 2019. Results Melanoma incidence rates reached 44.26 cases/100,000 inhabitants/year and the rates by sex reached 52.87 in men and 46.73 cases in women per 100,000 inhabitants. The most affected age group was 70 years old and over, with 421 cases in men and 301 cases/100,000 inhabitants in women. Superficial spreading melanoma occurred in 64.5% of the cases, followed by nodular melanoma in 22.8%. Early diagnoses reached 1900% with Breslow < 0.5 mm. Study limitations This study only covers histopathological reports with definitive diagnoses of cutaneous melanoma; therefore, the data are underestimated, consequently resulting in lower rates than in reality. Conclusions The incidence of cutaneous melanoma has increased fivefold between 1980 and 2009 and early diagnosis increased as a result of health education and primary prevention.

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Abstract Background In hospital settings, dermatology can offer substantial clinical support for the diagnosis and management of skin conditions, reducing morbidity and mortality. Thus, the study aimed to analyze the profile of referrals and consultations performed by the Dermatology Service of the Santa Casa de Misericordia de Porto Alegre, from August 2018 to January 2020. Methods This study is descriptive, quantitative, and retrospective, conducted through data collection and review of medical records and referrals. The variables included were clinical data of referrals, in-patients profiles, dermatological diagnoses, complementary exams, therapeutic conduct, and recommended follow-ups. Results A total of 1020 referrals were analyzed, which resulted in 641 consultations (328 men, 313 women). The most prevalent skin disease groups were ‘Dermatitis and Eczema’ (33.1%) and ‘Other infectious skin diseases (21.8%), while the most frequent ICD-10 were ‘Drug eruptions - L27’ (9.9%) and ‘Other and unspecified dermatitis - L30’ (6.6%). Corticoids were the most recommended treatments (27.7%), followed by antifungals (13.1%). ‘Consultation Discharge’ (44%) and ‘Outpatient’ Dermatology follow-up (27%) were the most frequent causes for ending consultation. Study limitations Among the study limitations, the authors highlight its retrospective nature, with data analysis based on referrals and medical records, which may present inaccurate or incomplete information. In addition to this, the study may demonstrate a certain degree of subjectivity due to the review and interpretation process conducted by the researchers. However, the definition of objective criteria based on previous studies attenuates such possible bias. Furthermore, considering that the Dermatology teams are composed of a preceptor dermatologist and residents, the established diagnoses were not submitted to third-party verification, except in the cases of skin biopsies and cultures. Thus, the professional’s experience and skills may have influenced the dermatological diagnoses. Conclusions These findings underlie the importance of Dermatology in hospital assistance, contributing to the management of a wide range of skin conditions.

Resumo em Inglês:

Abstract Background Psoriasis is a chronic inflammatory disease associated with systemic inflammation and comorbidities. Changes in the composition of the intestinal microbiome are involved in the pathogenesis of inflammatory diseases and metabolic syndrome. Characterizing the intestinal microbiome of patients with psoriasis may be relevant for the understanding of its clinical course and comorbidity prevention. Objective To characterize the intestinal microbiome of men with psoriasis compared to omnivore and vegetarian controls (without psoriasis). Method Cross-sectional study of 42 adult males: 21 omnivores with psoriasis; and controls: 14 omnivores and 7 vegetarian individuals. The characterization of the intestinal microbiome was performed by metagenomic analysis. Serum levels of lipopolysaccharide-binding protein (LPB) and C-reactive protein (CRP) were evaluated. Results The groups differed from each other regarding nutritional aspects and microbiome; individuals with psoriasis had a higher consumption of protein and lower consumption of fibers. Levels of LPB, CRP, and the Firmicutes/Bacteroidetes ratio were higher in the group with psoriasis than in the vegetarian group (p < 0.05). The genera Prevotella, Mogibacterium, Dorea, Bifidobacterium and Coprococcus, differed in the group with psoriasis compared to vegetarians; the genera Mogibacterium, Collinsella and Desulfovibrio differed from omnivores. A microbiome pattern linked to psoriasis (plsPSO) was identified, which was associated with higher LPB levels (rho = 0.39; p = 0.02), and lower dietary fiber intake (rho = −0.71; p < 0.01). Study limitations Only adult men were evaluated. Conclusion A difference was identified in the intestinal microbiome of adult men with psoriasis when compared to healthy omnivores and vegetarian controls. The identified microbiome pattern was correlated with dietary fiber intake and serum levels of LPB.

Resumo em Inglês:

Abstract Background Pesticides, mainly organophosphates (OP), have been related to increased risk of pemphigus vulgaris (PV) and pemphigus foliaceus (PF), nevertheless, their measurement has not been determined in pemphigus patients. Objective To evaluate pesticide exposure and pesticide measurement, comparing PV, PF and control groups in Southeastern Brazil. Methods Information about urban or rural residency and exposure to pesticides at the onset of pemphigus was assessed by questionnaire interview; hair samples from the scalp of PV, PF, and controls were tested for OP and organochlorines (OC) by gas-phase chromatography coupled to mass spectrometry. Results The minority of PV (2 [7.1%] of 28) and PF (7 [18%] of 39), but none of the 48 controls, informed living in rural areas at the onset of pemphigus (p = 0.2853). PV (33.3%), PF (38.5%), and controls (20%) informed exposure to pesticides (p = 0.186). Twenty-one (14.8%) of 142 individuals tested positive for OP and/or OC: PV (2 [6.3%] of 32) and PF (11 [25.6%] of 43) had similar pesticides contamination as controls (8 [11.9%] of 67) (p = 0.4928; p = 0.0753, respectively), but PF presented higher contamination than PV (p = 0.034). PV did not present any positivity for OP. Three (7%) PF tested positive for both OP and OC. Some PF tested positive for three or four OP, mainly diazinon and dichlorvos. Study limitation Lack of data for some controls. Conclusion Although the frequency of PV and PF patients exposed to pesticides was similar, pesticides were more frequently detected in hair samples from PF compared to PV. The cause-effect relationship still needs to be determined.

Resumo em Inglês:

Abstract Objective The authors investigated the expression of IgG4 and IgG in cutaneous Rosai-Dorfman Disease (CRDD) to further improve the understanding of this disease. Methods The authors retrospectively reviewed the clinicopathological features of 23 CRDD patients. The authors diagnosed CRDD by the presence of emperipolesis and immunohistochemical (IHC) staining of histiocytes consisting of S-100(+)/CD68(+)/CD1a(-) cells. The expressions of IgG and IgG4 in cutaneous specimens were assessed by IHC (EnVision) and quantitatively calculated by a medical image analysis system. Results All 23 patients, including 14 males and 9 females, were confirmed to have CRDD. Their ages ranged from 17 to 68 years (mean 47.91 ± 14.16). The most frequently affected skin regions were the face, followed by the trunk, ears, neck, limbs, and genitals. In 16 of these cases, the disease presented as a single lesion. IHC staining of sections showed that IgG was positive (≥ 10 cells/High-Power Field [HPF]) in 22 cases, while IgG4 was positive (≥ 10 cells/HPF) in 18 cases. Moreover, the IgG4/IgG proportion ranged from 1.7% to 85.7% (mean 29.50 ± 24.67%, median 18.4%) in the 18 cases. Study limitations In the majority of studies, as well as in the current study, the design. RDD is a rare disease, so the sample size is small. In the next studies to come, the authors will expand the sample for multi-center verification and in-depth study. Conclusion The positive rates of IgG4 and IgG and the IgG4/IgG ratio assessed through IHC staining may be important in understanding the pathogenesis of CRDD.

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Abstract The JAK-STAT signaling pathway mediates important cellular processes such as immune response, carcinogenesis, cell differentiation, division and death. Therefore, drugs that interfere with different JAK-STAT signaling patterns have potential indications for various medical conditions. The main dermatological targets of JAK-STAT pathway inhibitors are inflammatory or autoimmune diseases such as psoriasis, vitiligo, atopic dermatitis and alopecia areata; however, several dermatoses are under investigation to expand this list of indications. As JAK-STAT pathway inhibitors should gradually occupy a relevant space in dermatological prescriptions, this review presents the main available drugs, their immunological effects, and their pharmacological characteristics, related to clinical efficacy and safety, aiming to validate the best dermatological practice.