Sweet syndrome associated with malignant disease
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PROVIDER: S-EPMC10089632 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
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Project description:Background and aimsSweet 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.MethodsPeer-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.ResultsWe 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.ConclusionsSS 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.
| S-EPMC8675328 | biostudies-literature
Project description:Cryptococcoid Sweet syndrome is a rare histologic variant of the neutrophilic dermatosis presenting clinically with skin lesions typical of classical Sweet syndrome but with yeast-like structures suggestive of Cryptococcus on histopathology. Histochemical stains for fungus and cultures are negative whereas staining for myeloperoxidase is positive. We present 2 cases of cryptococcoid Sweet syndrome with atypical skin manifestations, including hemorrhagic bullae and plaques, and provide a brief review of the literature. Clinicians should be aware that this variant of Sweet syndrome can present with uncommon clinical findings and has histopathologic findings suggestive of Cryptococcus species.
| S-EPMC9697588 | biostudies-literature
Project description:BackgroundSweet syndrome (SS), also known as acute febrile neutrophilic dermatosis, is an immunologic syndrome characterized by widespread neutrophilic infiltration. Histiocytoid Sweet syndrome (H-SS) is a histopathologic variant of SS. While SS most commonly occurs in adults, this case report discusses an infant patient who presented with H-SS.Case presentationThrough a multidisciplinary approach, this patient was also found to have very early onset inflammatory bowel disease (VEO-IBD) and Mevalonate kinase-associated disease (MKAD). While prior case studies have characterized an association between VEO-IBD and MKAD, there is no literature describing the association of all three diagnoses this case: H-SS, VEO-IBD and MKAD. Initiation of canakinumab in this patient resulted in successful control of the disease.ConclusionsThis case highlights the importance of a multidisciplinary approach to rare diagnoses, and collaboration during cases with significant diagnostic uncertainty.
| S-EPMC10496215 | biostudies-literature
Project description:Cryptococcoid Sweet syndrome (cSS) is a recently described clinical and histological variant of Sweet syndrome (SS). Its cutaneous presentation is similar to the classical form of SS but it includes atypical findings, such as capsular and yeast-like structures on microscopy that are reminiscent of Cryptococcus species. However, in cSS, fungal staining and cultural examination are negative, whereas myeloperoxidase (MPO) staining on biopsy specimens is typically positive. Due to the rarity and the diagnostic challenge represented by this disease, its extracutaneous involvement, and the latency in its diagnosis, this condition is frequently associated with poor prognosis. In this study, we report the case of a cSS patient with a positive outcome.
| S-EPMC11496249 | biostudies-literature
Project description:Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is an inflammatory, non-infectious skin reaction characterized clinically by tender, erythematous papules/plaques/pustules/nodules commonly appearing on the upper limbs, trunk, and head and neck; histologically, SS is characterized by dense neutrophilic infiltrate in the dermis. SS is accompanied by fever; an elevation of inflammatory markers (e.g., erythrocyte sedimentation rate, C reactive protein) in serum may also be observed. Although most cases of SS are idiopathic, SS also occurs in the setting of malignancy or following administration of an associated drug. SS has also been reported in association with pregnancy and a burgeoning list of infectious (most commonly upper respiratory tract infections) and inflammatory diseases; likewise, the litany of possible iatrogenic triggers has also grown. Over the past several years, a wider spectrum of SS presentation has been realized, with several reports highlighting novel clinical and histological variants. Corticosteroids continue to be efficacious first-line therapy for the majority of patients with SS, although novel steroid-sparing agents have been recently added to the therapeutic armamentarium against refractory SS. New mechanisms of SS induction have also been recognized, although the precise etiology of SS still remains elusive. Here, we catalogue the various clinical and histological presentations of SS, summarize recently reported disease associations and iatrogenic triggers, and review treatment options. We also attempt to frame the findings of this review in the context of established and emerging paradigms of SS pathogenesis.
| S-EPMC8853033 | biostudies-literature
Project description:Glycosaminoglycans (GAGs) such as chondroitin are ubiquitous disaccharide carbohydrate chains that contribute to the formation and function of proteoglycans at the cell membrane and in the extracellular matrix. Although GAG-modifying enzymes are required for diverse cellular functions, the role of these proteins in human development and disease is less well understood. Here, we describe two sisters out of seven siblings affected by congenital limb malformation and malignant lymphoproliferative disease. Using Whole-Genome Sequencing (WGS), we identified in the proband deletion of a 55 kb region within chromosome 12q23 that encompasses part of CHST11 (encoding chondroitin-4-sulfotransferase 1) and an embedded microRNA (MIR3922). The deletion was homozygous in the proband but not in each of three unaffected siblings. Genotyping data from the 1000 Genomes Project suggest that deletions inclusive of both CHST11 and MIR3922 are rare events. Given that CHST11 deficiency causes severe chondrodysplasia in mice that is similar to human limb malformation, these results underscore the importance of chondroitin modification in normal skeletal development. Our findings also potentially reveal an unexpected role for CHST11 and/or MIR3922 as tumor suppressors whose disruption may contribute to malignant lymphoproliferative disease.
| S-EPMC4585449 | biostudies-literature
Project description:BackgroundMultiple system atrophy (MSA) associated with neuroleptic malignant-like syndrome (NMLS) is rare and few cases have been described in the literature.Case presentationIn the present study, three patients with MSA associated with NMLS were analyzed from January 2012 to January 2020 to characterize their clinical presentations. Data collected from the patients for analysis included general patient history, the fluctuation and severity of disease symptoms, the indicated therapies and disease progression at follow-up. All patients had histories of sudden withdrawal or reduction of levodopa prior to the onset of symptoms. Clinical presentations were characterized by hyperthermia, autonomic dysfunction, worsening of extrapyramidal symptoms, and elevated serum creatine kinase (CK) levels. During hospitalization, one patient rapidly progressed and died, while the other two patients were successfully treated.ConclusionsEarly diagnosis and treatment are very important for patient outcomes in NMLS. Notably, the correct dose and time of administration of dopaminergic medication may be key in treating NMLS.
| S-EPMC8876065 | biostudies-literature
Project description:Acute febrile neutrophilic dermatosis (Sweet syndrome) is a potentially fatal multiorgan inflammatory disease characterized by fever, leukocytosis, and rash with a neutrophilic infiltrate. Disease pathophysiology remains elusive. Corticosteroids and steroid sparing agents remain mainstays of treatment, but refractory cases pose a clinical challenge. Transcriptomic profiling of a refractory Sweet syndrome patient will improve our understanding of pathophysiology of the disease and, ultimately wiil help us to find a guided therapy. We used microarray to perform molecular characterization of a particular refractory Sweet Syndrome patient and to identify altered pathways that may be targeted via currently available small molecular inhibitors.
2023-01-04 | GSE190335 | GEO
Project description:Sweet syndrome (SS), originally described as acute febrile neutrophilic dermatosis, is a rare inflammatory skin condition, considered the prototype of neutrophilic dermatoses. It is characterised by the sudden onset of well-defined tender papules, plaques and nodules often accompanied by fever, neutrophilia and elevated markers of inflammation. Several variants have been described both clinically and histopathologically. Classifications include idiopathic, malignancy-associated, and drug-induced SS. The exact pathogenesis of SS is still unclear; however, recent findings have shed light on the role of dermal infiltrating neutrophils-in the context of innate immunity, and signalling pathways related to adaptive immunity. To critically analyse the current molecular landscape of SS and discuss the recent evidence supporting novel potential immune mediators and biological signalling pathways involved in SS pathogenesis. The methodology followed PRISMA guidelines and included two bibliographical databases, searching articles published until 17 December 2023. Titles, abstracts and full text were reviewed independently by two assessors, while other two investigators resolved any opinion differences. Of 3303 records identified through database search, 22 articles met the eligibility criteria for inclusion. We considered experimental studies that performed molecular analysis, in terms of cytokines quantification, gene expression and/or immunofluorescence/immunohistochemistry. As for the latter, only studies aimed at characterising the nature of the inflammatory infiltrate and potential mechanisms leading to distinct forms of cutaneous inflammatory cell influx were included. Overall, we described research on 202 SS patients (177 skin biopsies and 25 blood specimens) revealing the predominant role of neutrophil activation and abnormal proliferation as unifying mechanisms in different SS subtypes. Interestingly, we found that hyperactivation of the IL-1 pathway might occur only in a subset of SS patients and adaptive immunity could also play a role in the pathogenic scenario of SS, with a potential significant role of IL-17 axis. This systematic review provides a wealth of evidence on the molecular landscape of SS, although further research is needed to a deeper understanding of the patho-mechanisms of this rare disease and hopefully lead to targeted therapeutic approaches.
| S-EPMC11660222 | biostudies-literature
Project description:ImportanceHistiocytoid Sweet syndrome is a rare histopathologic variant of Sweet syndrome. The nature of the histiocytoid infiltrate has generated considerable controversy in the literature.ObjectiveThe main goal of this study was to conduct a comprehensive overview of the immunohistochemical phenotype of the infiltrate in histiocytoid Sweet syndrome. We also analyze whether this variant of Sweet syndrome is more frequently associated with hematologic malignancies than classic Sweet syndrome.DesignThis is a retrospective case series study of the clinicopathologic, immunohistochemical, and molecular features of 33 patients with a clinicopathologic diagnosis of histiocytoid Sweet syndrome was conducted in the dermatology departments of 5 university hospitals and a private laboratory of dermatopathology.Main outcome and measuresThe clinical, histopathological, immunohistochemical, and follow-up features of 33 patients with histiocytoid Sweet syndrome were analyzed. In some cases, cytogenetic studies of the dermal infiltrate were also performed. We compare our findings with those of the literature.ResultsThe dermal infiltrate from the 33 study patients (20 female; median age, 49 years; age range, 5-93 years; and 13 male; median age, 42 years; age range, 4-76 years) was mainly composed of myeloperoxidase-positive immature myelomonocytic cells with histiocytoid morphology. No cytogenetic anomalies were found in the infiltrate except in 1 case in which neoplastic cells of chronic myelogenous leukemia were intermingled with the cells of histiocytoid Sweet syndrome. Authentic histiocytes were also found in most cases, with a mature immunoprofile, but they appeared to be a minor component of the infiltrate. Histiocytoid Sweet syndrome was not more frequently related with hematologic malignancies than classic neutrophilic Sweet syndrome.Conclusions and relevanceThe dermal infiltrate of cutaneous lesions of histiocytoid Sweet syndrome is composed mostly of immature cells of myeloid lineage. This infiltrate should not be interpreted as leukemia cutis.
| S-EPMC5543327 | biostudies-literature