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The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), which has recently been described, is a monogenic autoinflammatory syndrome that primarily affects males and has its onset in adulthood. The disease is caused by somatic mutations in the UBA1 gene (ubiquitin-like modifier activating enzyme 1), which is responsible for cellular processes, particularly in maintaining protein homeostasis. It presents with severe and progressive systemic inflammation that is resistant to therapy. Common symptoms include fever and constitutional syndrome, along with hematological manifestations such as macrocytic anemia, other cytopenias, myelodysplastic syndrome, and characteristic vacuolization of myeloid and erythroid cells. Additional symptoms may involve the skin (neutrophilic dermatosis), lungs, chondritis, and vasculitis. Thus, in a case where a male patient presents with recurrent neutrophilic dermatosis unresponsive to treatment, macrocytic anemia, and systemic autoinflammatory manifestations, it is important to suspect this newly identified condition and proceed with a confirmatory genetic test.

Hidradenitis suppurative (HS) is a multifactorial, recurrent, chronic inflammatory disease with a significant impact on patient’s quality of life. The etiopathogenesis of this complex condition is not fully understood. In this systematic review, we aimed to address and clarify the role of genetics, immunity, endocrinology, and skin microbiome together with risk factors in HS etiopathogenesis. A systematic review, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, was performed using PubMed® and Web of ScienceTM databases on December 3rd, 2021, using patient/population, intervention, comparison and outcomes (PICO) criteria, limited to the last 10 years and English. Reports were analyzed by two independent reviewers. A total of 123 reports were included and divided into five sections: genetics, immunity, endocrinology, microbiome, and risk factors. Regarding genetics, up to 30-40% of patients have a positive family history of HS but only a small subset of these harbor genetic variants in components of the gamma-secretase complex. In fact, in more than 90% of HS patients, the genetic features contributing to disease development remain largely unknown. The immune response is also crucial for HS; it is characterized by antimicrobial peptide and proinflammatory cytokine dysregulation, namely interleukin (IL)—IL-23, IL-12, and Th17 immune response. This immune response in local and, consequently, systemic inflammation is amplified in patients with metabolic syndrome. The relationship between metabolic syndrome and HS is clear, and patients with metabolic syndrome have a higher risk of developing HS. The most recent evidence also associates skin microbiota dysbiosis with HS pathogenesis, contributing to local and systemic inflammation. Besides these intrinsic factors, the role of lifestyle in the development of HS is well accepted. Tobacco smoking and obesity are the main risk factors identified as contributing to HS pathogenesis. Chronic inflammation characterizes HS, a debilitating condition with a complex and multifactorial etiopathogenesis. The current model integrates genetics, immunity, endocrinology, and skin microbiome. Notwithstanding, efforts should be made to improve our comprehension of HS etiopathogenesis, hopefully leading to the development of more effective treatments.

The widely used plasticizer bisphenol-A (BPA) is well-known for producing neurodegeneration and cognitive disorders, following acute and long-term exposure. Although some of the BPA actions involved in these effects have been unraveled, they are still incompletely known. Basal forebrain cholinergic neurons (BFCN) regulate memory and learning processes and their selective loss, as observed in Alzheimer’s disease and other neurodegenerative diseases, leads to cognitive decline. In order to study the BPA neurotoxic effects on BFCN and the mechanisms through which they are induced, 60-day old Wistar rats were used, and a neuroblastoma cholinergic cell line from the basal forebrain (SN56) was used as a basal forebrain cholinergic neuron model. Acute treatment of rats with BPA (40 µg/kg) induced a more pronounced basal forebrain cholinergic neuronal loss. Exposure to BPA, following 1- or 14-days, produced postsynaptic-density-protein-95 (PSD95), synaptophysin, spinophilin, and N-methyl-D-aspartate-receptor-subunit-1 (NMDAR1) synaptic proteins downregulation, an increase in glutamate content through an increase in glutaminase activity, a downregulation in the vesicular-glutamate-transporter-2 (VGLUT2) and in the WNT/β-Catenin pathway, and cell death in SN56 cells. These toxic effects observed in SN56 cells were mediated by overexpression of histone-deacetylase-2 (HDAC2). These results may help to explain the synaptic plasticity, cognitive dysfunction, and neurodegeneration induced by the plasticizer BPA, which could contribute to their prevention.

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A transgeracionalidade psíquica do trauma remete-nos para o irrepresentável de uma história familiar impensada. Trauma vergonhoso ou secreto que insere o sujeito numa cadeia genealógica e o faz transportar um sofrimento que não é somente o seu. Revisitando o pensamento de diversos autores, este artigo procura entender o impacto da herança psíquica alienante e a forma como os fragmentos traumáticos inconscientes se transmitem através das gerações. Padrões de vinculação desregulados, sofrimentos inconscientes nos pais e avós e a dificuldade de mentalizar os conteúdos traumáticos que daí advêm perpetuam a existência de vazios de representação que se inscrevem inclusivamente na assinatura epigenética do indivíduo.

The neutrophilic dermatoses (ND) comprise a group of heterogeneous disorders characterised by inflammatory skin lesions that histologically show an intense inflammatory infiltrate composed primarily by neutrophils, with no evidence of infection. Although there are distinct clinical differences in the classical lesions of these disorders, many patients have overlapping features. In this mini-review we describe the clinical aspects of the main NDs, including: Sweet’s syndrome, neutrophilic dermatosis of the dorsal hands, pyoderma gangrenosum, erythema elevatum diutinum, subcorneal pustular dermatosis, neutrophilic eccrine hidradenitis, rheumatoid neutrophilic dermatitis, neutrophilic panniculitis, and aseptic abscesses, their association with underlying diseases, differential diagnosis, treatment options, and prognosis

FUNDAMENTOS: A alopecia androgenética é a causa mais comum de perda progressiva de cabelo. Geralmente ocorre em doentes com predisposição hereditária para esse tipo de alopecia e com androgénios circulantes. OBJETIVO: Avaliar aspectos epidemiológicos e clínicos de pacientes com alopecia androgenética pertencentes ao sexo feminino. MÉTODOS: Realizou-se estudo clínico transversal e descritivo em grupo de mulheres com alopecia androgenética observadas na consulta de tricologia entre 2004 e 2006. Os dados foram analisados com base na estatística descritiva e no teste do qui-quadrado. RESULTADOS: Foram estudadas 200 mulheres com diagnóstico clínico de alopecia androgenética. Em 68% das pacientes foi detectada história familiar e, na maioria das mulheres, a alopecia era frontobiparietal. De acordo com os dados analíticos estudados, 17% delas tiveram níveis baixos de zinco e 9% de albumina e ferritina. Em 20% foi detectada alteração no estudo hormonal. CONCLUSÃO: A alteração analítica mais detectada nas mulheres estudadas com alopecia androgenética foi a alteração hormonal.BACKGROUND: Androgenetic alopecia is the most frequent cause of progressive hair loss. It usually affects individuals with genetic predisposition and sufficient circulating androgens. OBJECTIVE: To assess the clinical and epidemiology aspects of androgenetic alopecia in females. METHODS: A cross-sectional and descriptive study was performed. The sample comprised a group of women with androgenetic alopecia seen in trichology consultation from 2004 to 2006. The results were analyzed using descriptive statistics and the chi-square test. RESULTS: A total of 200 women with clinical diagnosis of androgenetic alopecia were studied. Family history was detected in 68% of patients, and the most common site was frontoparietal hairline. The laboratory tests showed that 17% of females had low zinc and 9% low albumin and ferritin levels. Twenty percent of patients presented changes in hormone levels. CONCLUSION: The most common laboratory finding in the patients studied was hormone changes.

Adverse cutaneous reactions to drugs are frequent, affecting from 2% to 3% of all hospitalized patients. But only about 2% of these cutaneous reactions are severe and seldom are fatal. The term drug hypersensitivity syndrome refers to a specific severe drug reaction, including skin rash, fever, lymph node enlargement, and single or multiple organ involvement. The cutaneous rash is usually morbilliform. The drugs associated with the syndrome are: anticonvulsants, ACE inhibitors, Beta-blockers, allopurinol and sulphonamides. The differential diagnosis includes maculopapular rash, exfoliative dermatitis, acute generalized exanthematous pustulosis and Sézary syndrome. The interval between the starting of drug therapy and the onset of cutaneous reactions may be at least one month, and therefore the implication of the drug in the aetiology may be subdiagnosed.