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Rheumatology International Jul 2024VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly discovered autoinflammatory condition characterised by somatic mutation of the UBA1... (Review)
Review Meta-Analysis
BACKGROUND
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly discovered autoinflammatory condition characterised by somatic mutation of the UBA1 gene. The syndrome leads to multi-system inflammation affecting predominantly the skin, lungs and bone marrow.
METHODS
We undertook a systematic review of the multisystem features and genotypes observed in VEXAS syndrome. Articles discussing VEXAS syndrome were included. Medline, Embase and Cochrane databases were searched. Information was extracted on: demographics, type and prevalence of clinical manifestations, genetic mutations and treatment. Meta-analysis using a random effects model was used to determine pooled estimates of serum markers.
RESULTS
From 303 articles, 90 were included, comprising 394 patients with VEXAS. 99.2% were male, with a mean age of 67.1 years (SD 8.5) at disease onset. The most frequent diagnoses made prior to VEXAS were: relapsing polychondritis (n = 59); Sweet's syndrome (n = 24); polyarteritis nodosa (n = 11); and myelodysplastic syndrome (n = 10). Fever was reported in 270 cases (68.5%) and weight loss in 79 (20.1%). Most patients had haematological (n = 342; 86.8%), dermatological (n = 321; 81.5%), pulmonary (n = 297; 75.4%%) and musculoskeletal (n = 172; 43.7%) involvement, although other organ manifestations of varying prevalence were also recorded. The most commonly reported mutations were "c.122T > C pMET41Thr" (n = 124), "c.121A > G pMET41Val" (n = 62) and "c.121A > C pMet41Leu" (n = 52). Most patients received glucocorticoids (n = 240; 60.9%) followed by methotrexate (n = 82; 20.8%) and IL-6 inhibitors (n = 61, 15.4%). One patient underwent splenectomy; 24 received bone marrow transplants.
CONCLUSION
VEXAS syndrome is a rare disorder affecting predominantly middle-aged men. This is the first systematic review to capture clinical manifestations, genetics and treatment of reported cases. Further studies are needed to optimise treatment and subsequently reduce morbidity and mortality.
Topics: Humans; Male; Ubiquitin-Activating Enzymes; Female; Mutation; Syndrome; Aged; Middle Aged; Myelodysplastic Syndromes; Sweet Syndrome; Polyarteritis Nodosa; Hereditary Autoinflammatory Diseases
PubMed: 38129348
DOI: 10.1007/s00296-023-05513-0 -
Metabolites Jun 2023Bowel-associated arthritis-dermatosis syndrome (BADAS) is a rare neutrophilic dermatosis that was first described in 1971 in patients who underwent bypass surgery for... (Review)
Review
Bowel-associated arthritis-dermatosis syndrome (BADAS) is a rare neutrophilic dermatosis that was first described in 1971 in patients who underwent bypass surgery for obesity. Over the years, the number of reported cases associated with medical gastroenterological conditions, particularly inflammatory bowel disease (IBD), has progressively increased. To date, there are no systematic reviews in the literature on BADAS. The design of an a priori protocol was based on PRISMA guidelines, and a search of PubMed and Scopus databases was conducted for articles published between 1971 and 2023 related to the topic. Fifty-one articles including 113 patients with BADAS were analyzed in this systematic review. Bariatric surgery and IBD were the most frequently reported causes of BADAS, accounting for 63.7% and 24.7% of all cases, respectively. A total of 85% of cases displayed the typical dermatological presentation, including urticarial maculopapular lesions centered by a vesicopustule, with the majority of lesions located on the upper limbs (73.5%). Polyarthralgia or localized arthritis were always present. Atypical presentations included cellulitis-like, erythema-nodosum-like, Sweet-syndrome-like and pyoderma-gangrenosum-like manifestations. Gastrointestinal symptoms were frequently observed in IBD-related cases (67.9%). The histopathology showed a neutrophilic infiltrate (96.6%). The most commonly used treatment regimens consisted of systemic corticosteroids, metronidazole and tetracyclines, either alone or in combination. A relapsing-remitting course was observed in 52.1% of patients. In conclusion, BADAS is a neutrophilic dermatosis that presents with a wide variety of cutaneous manifestations, both typical and atypical. Gastrointestinal symptoms are frequently observed, particularly in cases related to IBD. The histopathology is clear but not specific compared with other neutrophilic dermatoses. The diagnosis can be challenging, but the relapsing-remitting course and the strong association with polyarthralgia and gastrointestinal disease can aid in the diagnosis.
PubMed: 37512497
DOI: 10.3390/metabo13070790 -
Human Vaccines & Immunotherapeutics Aug 2023Since COVID-19 became a global pandemic in 2020, the development and application of SARS-CoV-2 vaccines has become an important task to prevent the spread of the...
Since COVID-19 became a global pandemic in 2020, the development and application of SARS-CoV-2 vaccines has become an important task to prevent the spread of the epidemic. In addition to the safety and efficacy of COVID-19 vaccines, the adverse reactions caused by vaccines in a small number of people also deserve our attention. We aimed to discuss and analyze the possible causes of Sweet syndrome caused by the COVID-19 vaccine by integrating the effective information from 16 patients and combining it with the latest views on the innate immune mechanism. We searched the PubMed and Embase databases for published patient reports on the occurrence or recurrence of Sweet syndrome after COVID-19 vaccination. We summarized the basic information of the patients, the type of vaccination, the presence of underlying diseases, and the clinical manifestations, clinical treatment and prognosis of the patients. The results were reported in narrative methods and were sorted into tables. We initially identified 53 studies. 16 articles were included through full-text screening. Based on the table we compiled, we generally concluded that the first dose of any type of COVID-19 vaccine was more likely to cause Sweet syndrome than subsequent doses. Sweet syndrome may occur after COVID-19 vaccination. Clinicians should consider Sweet syndrome in addition to common adverse reactions such as anaphylaxis and infection when a patient presents with acute fever accompanied by nodular erythema, pustules, and edematous plaques after COVID-19 vaccination.
Topics: Humans; COVID-19; COVID-19 Vaccines; Pandemics; SARS-CoV-2; Sweet Syndrome
PubMed: 37313726
DOI: 10.1080/21645515.2023.2217076 -
The American Journal of Dermatopathology Jun 2023Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a rare, hereditary, autoinflammatory disease. However, there are few...
BACKGROUND
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a rare, hereditary, autoinflammatory disease. However, there are few cases reported in the literature. Therefore, we conduct this systematic review to summarize current evidence.
METHODS
We conducted a systematic search in July 2021 using 11 different electronic databases. The included articles were screened according to our inclusion and exclusion criteria and assessed using an appropriate quality assessment tool. Then, the relevant data were extracted and summarized in tables accordingly. Each step of the previous one was done by 3 independent reviewers, and the conflicts were resolved by discussion and sometimes by counseling a senior member.
RESULTS
The final included studies were 18 articles with 34 cases (mean age = 8 years, male/female = 19/15). The most reported symptoms and signs were fever 97.1%, erythematous plaques 76.5%, arthralgia 67.6%, hepatomegaly 61.8%, violaceous hue 61.8%, lipodystrophy in extremities 53.1% in addition to low weight and height. Rare features were reported too. The laboratories were not specific, which may be explained by a systemic inflammatory response. Vasculitis was the dominant feature in the skin biopsy, whereas the calcification in the basal ganglia was a prominent sign in many cases.
CONCLUSIONS
Fever, skin lesions, and systemic inflammatory response were the prominent features of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. The clinical picture is the main guide in addition to the pathological findings. Mutation detection is the confirmatory test. Prednisolone is the most effective reported treatment for acute presentations in the literature.
Topics: Humans; Male; Female; Child; Sweet Syndrome; Skin Diseases; Dermatitis; Lipodystrophy; Fever; Chronic Disease; Systemic Inflammatory Response Syndrome
PubMed: 37191371
DOI: 10.1097/DAD.0000000000002345 -
Frontiers in Medicine 2021Mexicans and Mexican Americans share culture, genetic background, and predisposition for chronic complications associated with obesity and diabetes making imperative...
Looking for Crumbs in the Obesity Forest: Anti-obesity Interventions and Obesity-Associated Cardiometabolic Traits in the Mexican Population. History and Systematic Review With Meta-Analyses.
Mexicans and Mexican Americans share culture, genetic background, and predisposition for chronic complications associated with obesity and diabetes making imperative efficacious treatments and prevention. Obesity has been treated for centuries focused-on weight loss while other treatments on associated conditions like gout, diabetes (T2D), and hypertriglyceridemia. To date, there is no systematic review that synthesizes the origin of obesity clinics in Mexico and the efforts to investigate treatments for obesity tested by randomized clinical trials (RCT). We conducted systematic searches in Pubmed, Scopus, and Web of Science to retrieve anti-obesity RCT through 2019 and without an inferior temporal limit. The systematic review included RCT of anti-obesity treatments in the Mexican adult population, covering alternative medicine, pharmacological, nutritional, behavioral, and surgical interventions reporting metabolism-associated traits such as BMI, weight, waist circumference, triglycerides, glucose, among others. Only the studies with at least 3 months of treatment were included in the meta-analyses in order to reduce placebo effects. We found 634 entries, after removal of duplicates and screening the studies based on eligibility criteria, we analyzed 43 national, and 2 multinational-collaborative studies. Most of the national studies had small sample sizes, and the implemented strategies do not have replications in the population. The nutrition/behavioral interventions were difficult to blind, and most studies have medium-to-high risk of bias. Nutritional/behavioral interventions and medications showed effects on BMI, waist circumference, and blood pressure. Simple measures like pure water instead of sweet beverages decrease triglycerides and systolic blood pressure. Dark chocolate showed the highest effect for BMI and high blood pressure, and treatment with insulin increased weight in those with T2D. The study of obesity in Mexico has been on-going for more than four decades, the interest on RCT just increased until this millennium, but with small sample sizes and lack of replication. The interventions affect different cardiometabolic associated traits, which should be analyzed in detail in the population living near the Mexico-U.S. border; therefore, bi-national collaboration is desirable to disentangle the cultural effects on this population's treatment response. https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020221436, identifier: CRD42020221436.
PubMed: 34805192
DOI: 10.3389/fmed.2021.665023 -
Journal of Cutaneous Medicine and... 2022
Topics: Dermatitis; Humans; Interleukin-17; Pyoderma Gangrenosum; Sweet Syndrome
PubMed: 34498508
DOI: 10.1177/12034754211045389 -
Scandinavian Journal of Rheumatology Jan 2022: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with mutations. Its main features are recurrent episodes...
: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with mutations. Its main features are recurrent episodes of fever and serositis. Patients can display dermatological manifestations such as erysipelas-like erythema, generally considered as a neutrophilic dermatosis (ND). It has been suggested that FMF can be associated with other types of ND. Our aim was to perform a systematic review of the literature to assess the link between ND and FMF.: A systematic review of the literature was performed using MEDLINE from 1946 to 2018. Three independent investigators identified reports of non-erysipelas-like erythema neutrophilic dermatosis (NEND) associated with FMF, selected the criteria to establish the diagnosis of FMF and ND, and evaluated the link between the two conditions. FMF-associated NEND was supported by confirmation of both diagnoses and exclusion of other causes of ND.: Eighteen articles were selected. Nine articles reported FMF patients with the following NEND: neutrophilic panniculitis (n = 4), Sweet syndrome (n = 6), and pyoderma gangrenosum (n = 1). None of these cases was supported by histological confirmation, fulfilled diagnostic criteria for definitive or probable FMF, or confirmed the exclusion of all the most frequent diseases associated with NEND. As a result, there is insufficient evidence to support a potential relationship between NEND and FMF.: The association between FMF and NEND remains unclear. In FMF patients with NEND, every differential diagnosis and alternative cause of NEND should be excluded before drawing any conclusions about a potential causal relationship.
Topics: Diagnosis, Differential; Familial Mediterranean Fever; Humans; Mutation; Pyrin; Skin Diseases
PubMed: 34159892
DOI: 10.1080/03009742.2021.1904588 -
Drug Safety Jul 2021Three cyclin-dependent kinases 4/6, including palbociclib, ribociclib, and abemaciclib, have been approved for the treatment of patients with hormone receptor-positive... (Review)
Review
Three cyclin-dependent kinases 4/6, including palbociclib, ribociclib, and abemaciclib, have been approved for the treatment of patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative advanced breast cancer. The objective of this study was to evaluate the occurrence and clinical spectrum of cutaneous adverse events in patients with breast cancer following therapy with cyclin-dependent kinase 4/6 inhibitors. A systematic literature search was performed in the PubMed, Cochrane, and EMBASE databases up to November 2020 to evaluate studies published from 2015 to 2020. Articles were selected by title, abstract, and full text as required. In addition, a manual search was performed from among the references of articles included. Forty-one articles were included with a total of 13 reported dermatologic reactions including alopecia, bullous skin rash, Stevens-Johnson syndrome, toxic epidermal necrolysis, radiation recall and radiation dermatitis, Henoch-Schonlein purpura, cutaneous leukocytoclastic vasculitis, subacute and chronic cutaneous lupus erythematosus, histiocytoid Sweet syndrome, vitiligo-like lesions, and erythema dyschromicum perstans. Skin toxicity is an important issue because it usually affects a patient's quality of life and could lead to a discontinuation of therapies; therefore, it is of fundamental importance to recognize and adequately manage the adverse skin reactions associated with these types of drugs.
Topics: Breast Neoplasms; Cyclin-Dependent Kinase 4; Cyclin-Dependent Kinase 6; Female; Humans; Protein Kinase Inhibitors; Quality of Life
PubMed: 33959899
DOI: 10.1007/s40264-021-01071-1 -
Journal of Crohn's & Colitis Nov 2021Sweet syndrome [SS] is a dermatological condition associated with both inflammatory bowel disease [IBD] and azathioprine use. We performed a systematic review to better...
BACKGROUND AND AIMS
Sweet syndrome [SS] is a dermatological condition associated with both inflammatory bowel disease [IBD] and azathioprine use. We performed a systematic review to better delineate clinical characteristics and outcomes of SS in IBD patients.
METHODS
Peer-reviewed, full-text journal publications from inception to April 2020 in English language and adult subjects with IBD were included. Skin biopsy was required as SS gold-standard diagnosis. Azathioprine-associated SS required recent azathioprine introduction or recurrence of SS after azathioprine re-challenge.
RESULTS
We included 89 publications with 95 patients [mean age of SS diagnosis: 44 years; 59% female; 20 with azathioprine-associated SS and 75 without]. SS was diagnosed prior to IBD in 5.3%, at time of IBD diagnosis in 29.5% and after diagnosis in 64.2%. In total, 91% of patients with SS had known colonic involvement and the majority [76%] had active IBD at diagnosis; 22% had additional extra-intestinal manifestations. Successful therapies for SS included corticosteroids [90.5%], anti-tumour necrosis factor [TNF]-α inhibitor therapy [14.8%] and azathioprine [11.6%]. Azathioprine-associated SS was distinct, with 85% male patients, mean age of SS diagnosis of 50 years and a lower likelihood to be prescribed corticosteroids for treatment [75% vs 94.7% of non-azathioprine-associated SS, p = 0.008]. All patients with azathioprine-associated SS improved with medication cessation and developed recurrence after re-challenge.
CONCLUSIONS
SS may precede or occur with IBD diagnosis in almost one-third of cases. Azathioprine and IBD-associated SS present and behave distinctly, especially with regard to gender, age at diagnosis and recurrence risk. Corticosteroids and TNF-α inhibitors have demonstrated efficacy in treating SS in IBD.
Topics: Adult; Humans; Inflammatory Bowel Diseases; Sweet Syndrome
PubMed: 33891004
DOI: 10.1093/ecco-jcc/jjab079 -
Critical Care Medicine Sep 2021Severe acute respiratory syndrome-related coronavirus-2 binds and inhibits angiotensin-converting enzyme-2. The frequency of acute cardiac injury in patients with... (Comparative Study)
Comparative Study Meta-Analysis
OBJECTIVES
Severe acute respiratory syndrome-related coronavirus-2 binds and inhibits angiotensin-converting enzyme-2. The frequency of acute cardiac injury in patients with coronavirus disease 2019 is unknown. The objective was to compare the rates of cardiac injury by angiotensin-converting enzyme-2-binding viruses from viruses that do not bind to angiotensin-converting enzyme-2.
DATA SOURCES
We performed a systematic review of coronavirus disease 2019 literature on PubMed and EMBASE.
STUDY SELECTION
We included studies with ten or more hospitalized adults with confirmed coronavirus disease 2019 or other viral pathogens that described the occurrence of acute cardiac injury. This was defined by the original publication authors or by: 1) myocardial ischemia, 2) new cardiac arrhythmia on echocardiogram, or 3) new or worsening heart failure on echocardiogram.
DATA EXTRACTION
We compared the rates of cardiac injury among patients with respiratory infections with viruses that down-regulate angiotensin-converting enzyme-2, including H1N1, H5N1, H7N9, and severe acute respiratory syndrome-related coronavirus-1, to those with respiratory infections from other influenza viruses that do not bind angiotensin-converting enzyme-2, including Influenza H3N2 and influenza B.
DATA SYNTHESIS
Of 57 studies including 34,072 patients, acute cardiac injury occurred in 50% (95% CI, 44-57%) of critically ill patients with coronavirus disease 2019. The overall risk of acute cardiac injury was 21% (95% CI, 18-26%) among hospitalized patients with coronavirus disease 2019. In comparison, 37% (95% CI, 26-49%) of critically ill patients with other respiratory viruses that bind angiotensin-converting enzyme-2 (p = 0.061) and 12% (95% CI, 7-22%) of critically ill patients with other respiratory viruses that do not bind angiotensin-converting enzyme-2 (p < 0.001) experienced a cardiac injury.
CONCLUSIONS
Acute cardiac injury may be associated with whether the virus binds angiotensin-converting enzyme-2. Acute cardiac injury occurs in half of critically ill coronavirus disease 2019 patients, but only 12% of patients infected by viruses that do not bind to angiotensin-converting enzyme-2.
Topics: Acute Disease; Angiotensin-Converting Enzyme 2; Angiotensin-Converting Enzyme Inhibitors; Arrhythmias, Cardiac; COVID-19; Down-Regulation; Heart Failure; Humans; Influenza A virus; Influenza B virus; Influenza, Human; Myocardial Ischemia; SARS-CoV-2
PubMed: 33870918
DOI: 10.1097/CCM.0000000000005026