Hereditary Tumor Syndromes with Skin Involvement

2019 ◽  
Vol 37 (4) ◽  
pp. 607-613 ◽  
Author(s):  
Ramiz N. Hamid ◽  
Zeynep M. Akkurt
2021 ◽  
Vol 9 (7) ◽  
Author(s):  
Maria Dimou ◽  
Theodoros Iliakis ◽  
Vasileios Paradalis ◽  
Aikaterini Bitsani ◽  
Marie‐Christine Kyrtsonis ◽  
...  

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1598.3-1598
Author(s):  
K. Romanowska-Prochnicka ◽  
A. Wajda ◽  
A. Paradowska-Gorycka ◽  
A. Felis-Giemza ◽  
E. Walczuk ◽  
...  

Background:PDGF is a potential important factor in the pathogenesis of scleroderma. PDGF is almost undetectable in healthy skin or lung. Immunohistochemical studies have revealed increased presence of PDGFαand PDGFβreceptors in scleroderma skin biopsies.Objectives:The aim of this study was to determine the mRNA level ofIFNα1,IL-4, TGFβ1,TGFβ2,PDGFα,PDGFβ,TNFαin whole blood in SSc patients in the aspect of clinicalMethods:A group of 14 patients (50% were women) with systemic sclerosis based on EULAR / ACR 2013 criteria was included in the study. The modified Rodnan Skin Score (mRSS) was evaluated by same assistant at the beginning of the study and six months later. DLCO, HRCT, echocardiography and NFC were measured.Gene expression was determined using validated TaqMan probes in qPCR. Constitutive mRNA level of selected genes was analyzed using ΔCt method. Comparison between different groups of patients was determined using non-parametric Mann-Whitney U test. Correlation was analyzed using non-parametric Spearman test.Results:The mean age of the patients was 60 ± 15.66. 100% of patients had organ involvement as pulmonary fibrosis. 78% - had active changes -features of ground glass.64% of patients had mild mRSS-1-10 skin involvement, 36% had moderate to severe skin involvement. In SSc patientsTGFβ1andIFNα1revealed the highest level of expression in comparison to other analyzed genes. Additionally, very high and significant correlation betweenTNFαandTGFβ1(r=0.7 p=0.004) has been noted. High and significant correlation between mRNAPDGFβandTNFαlevels have been observed. We did not reveal significant differences in analyzed genes expression when compare limited and diffuse SSc. Nevertheless, patients with dSSc were characterized by higher level ofIFNα1(almost 2 times) andTGFβ1. On the border of significance higherPDGFαmRNA level was observed in dSSc patients when compared to lSSc. AveragePDGFαexpression is higher in SSc patients with Scl70 positive than than in patients without Scl70 (p=0.04).In the aspect of clinical parameters, patients with ESR ≤12 mm/h revealed almost 6 times higher level ofIFNα1(p=0.01) in comparison to the patient with ESR>12mm/h.Patients with mRSS above10 points revealed significantly higher ofPDGFαexpression in comparison to patients with mRSS ≤10 (p=0.04). In these group of patients CRP and ESR were not different significantly.In the case of patients with active fibrosis (ground glass) in HRCTIFNα1expression was almost 2.5-times higher than in patients with HRCT non-active. Significantly higherPDGFα has been revealed in patients with active HRCT when compared with patient with non-active HRCT. Nevertheless these two groups did not differ in ESR or OB parameter.SSc patients in active phase of NFC revealed almost 3 times higher level ofIFNα1expression in comparison with the patient in late phase.Conclusion:The mRNA level ofPDGFαmay be a potential blood marker to predict worse prognosis in sclerodermaReferences:[1]Rheumatology (Oxford). 2008 Oct;47 Suppl 5:v2-4. doi: 10.1093/rheumatology/ken265.Role of PDGF in fibrotic diseases and systemic sclerosis.Trojanowska M1.Acknowledgments:NoDisclosure of Interests:None declared


Author(s):  
Selin Kesim ◽  
Kevser Oksuzoglu ◽  
Salih Ozguven ◽  
Tunc Ones ◽  
Leyla Cinel ◽  
...  

2021 ◽  
Vol 22 (13) ◽  
pp. 7072
Author(s):  
Andrea Toniato ◽  
Chiara Gamba ◽  
Jan Walter Schroeder ◽  
Valeria Fabbri ◽  
Scarlett Valeria Bernal Ortiz ◽  
...  

DRESS/DiHS is a complex and potentially fatal drug reaction. Little is known about risk factors and elements that can help to identify patients with a severe reaction early. The aim of the study was to investigate those factors favoring the disease and its severity by analyzing the clinical conditions and therapies preceding the reaction. We conducted a retrospective analysis on patients admitted to our center between 2010 and 2020 who were discharged with a diagnosis of DRESS. We used the RegiSCAR diagnostic criteria. We defined the severity of DRESS using the criteria of Mizukawa et al. We included 25 patients (15 females) with a median age of 66 years. Skin involvement, eosinophilia, and liver injury were the most important aspects. Allopurinol was found to be the most involved drug. Reaction severity was significantly associated with the number of daily medications (p=0.0067) and an age of at least 68 years (p=0.013). In addition, 75% of severe cases had at least three comorbidities in history, and most of the severe cases were female. In our study the advanced age, the high number of comorbidities and home therapies, and the inflammatory state were found to be predisposing elements to the development of the disease and its severity.


2021 ◽  
Vol 9 (1) ◽  
pp. 108
Author(s):  
Simone Bertz ◽  
Miriam Angeloni ◽  
Jan Drgac ◽  
Christina Falkeis ◽  
Corinna Lang-Schwarz ◽  
...  

Background: We aimed to provide insight into the actual frequencies of gastric adenoma types and their association with gastritis status and associated mucosal changes with a focus on Helicobacter infection and the operative link on gastritis assessment (OLGA)/operative link on gastric intestinal metaplasia assessment (OLGIM) staging. Methods: From the archive of the Institute of Pathology in Bayreuth, we collected a consecutive series of 1058 gastric adenomas diagnosed between 1987 and 2017. Clinicopathological parameters retrieved from diagnostic reports included adenoma type and localization, associated mucosal changes in antrum and corpus (i.e., type of gastritis, the extent of intestinal metaplasia and atrophy), gender, date of birth, and date of diagnosis. Results: Intestinal-type adenoma was the most frequent adenoma (89.1%), followed by foveolar-type adenoma (4.3%), pyloric gland adenoma (3.4%), adenomas associated with hereditary tumor syndromes (2.8%), and oxyntic gland adenoma (0.4%). Adenomas were found in the background of Helicobacter pylori (H. pylori) gastritis in 23.9%, Ex-H. pylori gastritis in 36.0%, autoimmune gastritis in 24.8%, chemical reactive gastritis in 7.4%, and others in 0.1%. More than 70% of patients with gastric adenomas had low-risk stages in OLGA and OLGIM. Conclusions: We found a higher frequency of foveolar-type adenoma than anticipated from the literature. It needs to be questioned whether OLGA/OLGIM staging can be applied to all patients.


Cancer ◽  
2005 ◽  
Vol 104 (9) ◽  
pp. 1862-1870 ◽  
Author(s):  
Uwe Guth ◽  
Edward Wight ◽  
Andreas Schotzau ◽  
Igor Langer ◽  
Holger Dieterich ◽  
...  

1975 ◽  
Vol 18 (6) ◽  
pp. 629-629 ◽  
Author(s):  
Thomas W. Bunch ◽  
Edwin A. Tervo
Keyword(s):  

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1149-1150
Author(s):  
L. Gossec ◽  
S. Siebert ◽  
P. Bergmans ◽  
K. De Vlam ◽  
E. Gremese ◽  
...  

Background:Several biologic DMARDs (bDMARDs) exist for PsA, TNFi and UST being the earliest on European markets. When bDMARDs are insufficiently effective, later-line bDMARDs typically have shorter persistence. Treatment persistence reflects a mix of effectiveness and adverse events (AEs), and persistence data are limited in PsA.Objectives:Comparative analysis of 1-year persistence of UST and TNFi within the prospective PsABio cohort.Methods:PsABio is an observational, multinational study of PsA patients (pts) treated with 1st to 3rd line UST or TNFi at their rheumatologist’s discretion.1Treatment persistence (up to 15 months of follow-up) was defined as time between start of first bDMARD treatment in PsABio, and either stop or switch to another bDMARD, or withdrawal.Persistence of UST and TNFi is shown by Kaplan-Meier curves and compared using Cox regression analysis, with propensity score (PS) to adjust for baseline imbalanced demographic and disease-related covariates (age, sex, bDMARD line, BMI, Clinical Disease Activity index for PSoriatic Arthritis [cDAPSA], 12-item PsA Impact of Disease [PsAID-12], Fibromyalgia Rapid Screening Tool [FiRST] score, co-treatments with MTX, NSAIDs, glucocorticoids, cardiovascular/metabolic comorbidities, dactylitis, enthesitis and body surface area [BSA]). Factors including concomitant MTX use and skin involvement: <3%, 3–10% and >10%, were added to the Cox model to investigate their impact on the PS-adjusted treatment effect.Results:Of 438 and 455 pts who started UST and TNF, respectively, 121 (28%) and 134 (29%) stopped or switched treatment before Month 15, with differences (as expected) according to treatment line (Fig. 1a, b). Reasons for stop/switch were related to safety/AEs in 12% (UST) and 28% (TNFi), and effectiveness (joints, nails or skin) in 77% (UST) and 69% (TNFi) of pts.The observed mean time on drug was 397 days for UST and 385 days for TNFi pts (1st line 410/397 days, 2nd 390/382 days, 3rd 381/338 days). Fig. 1b shows similar persistence for all drugs and treatment lines, except for lower persistence in TNFi 3rd line vs 1st/2nd. In PS-adjusted Cox analysis, no statistically significant difference between UST and TNFi persistence was seen; hazard ratio (HR; 95% CI) for stop/switch bDMARD (UST vs TNFi) was 0.82 (0.60, 1.13). In the model, bDMARD monotherapy (without MTX) and extensive skin involvement (BSA >10%), showed significantly better persistence for UST (HR 0.61 [0.42, 0.90] and 0.41 [0.19, 0.89] respectively; unadjusted Kaplan-Meier graphs shown in Fig. 1c, d). MTX co-therapy and low BSA did not affect the PS-adjusted treatment effect. Other factors added to the PS-adjusted Cox model did not show significant effects.Conclusion:In this real-world PsA cohort undergoing bDMARD treatment, persistence was generally comparable for UST and TNFi, but some clinical situations led to better drug persistence with UST compared to TNFi – particularly monotherapy, more extensive skin involvement, and in 3rd-line treatment. Our data emphasise the importance of skin involvement for pts with PsA.References:[1]Gossec L, et al.Ann Rheum Dis. 2018;77(suppl 2):Abstract AB0928Acknowledgments:This study was funded by Janssen.Disclosure of Interests:Laure Gossec Grant/research support from: Lilly, Mylan, Pfizer, Sandoz, Consultant of: AbbVie, Amgen, Biogen, Celgene, Janssen, Lilly, Novartis, Pfizer, Sandoz, Sanofi-Aventis, UCB, Stefan Siebert Grant/research support from: BMS, Boehringer Ingelheim, Celgene, GlaxoSmithKline, Janssen, Novartis, Pfizer, UCB, Consultant of: AbbVie, Boehringer Ingelheim, Janssen, Novartis, Pfizer, UCB, Speakers bureau: AbbVie, Celgene, Janssen, Novartis, Paul Bergmans Shareholder of: Johnson & Johnson, Employee of: Janssen, Kurt de Vlam Consultant of: Celgene Corporation, Eli Lilly, Novartis, Pfizer, UCB – consultant, Speakers bureau: Celgene Corporation, Eli Lilly, Novartis, Pfizer, UCB – speakers bureau and honoraria, Elisa Gremese Consultant of: AbbVie, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Sanofi, UCB, Roche, Pfizer, Speakers bureau: AbbVie, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Sanofi, UCB, Roche, Pfizer, Beatriz Joven-Ibáñez Speakers bureau: Abbvie, Celgene, Janssen, Merck Sharp & Dohme, Novartis, Pfizer, Tatiana Korotaeva Grant/research support from: Pfizer, Consultant of: Abbvie, BIOCAD, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Novartis-Sandoz, Pfizer, UCB, Speakers bureau: Abbvie, BIOCAD, Bristol-Myers Squibb, Celgene, Eli Lilly, Janssen, Merck Sharp & Dohme, Novartis, Novartis-Sandoz, Pfizer, UCB, Wim Noel Employee of: Janssen Pharmaceuticals NV, Michael T Nurmohamed Grant/research support from: Abbvie, Bristol-Myers Squibb, Celltrion, GlaxoSmithKline, Jansen, Eli Lilly, Menarini, Merck Sharp & Dohme, Mundipharma, Pfizer, Roche, Sanofi, USB, Consultant of: Abbvie, Bristol-Myers Squibb, Celltrion, GlaxoSmithKline, Jansen, Eli Lilly, Menarini, Merck Sharp & Dohme, Mundipharma, Pfizer, Roche, Sanofi, USB, Speakers bureau: Abbvie, Bristol-Myers Squibb, Celltrion, GlaxoSmithKline, Jansen, Eli Lilly, Menarini, Merck Sharp & Dohme, Mundipharma, Pfizer, Roche, Sanofi, USB, Petros Sfikakis Grant/research support from: Grant/research support from Abvie, Novartis, MSD, Actelion, Amgen, Pfizer, Janssen Pharmaceutical, UCB, Elke Theander Employee of: Janssen-Cilag Sweden AB, Josef S. Smolen Grant/research support from: AbbVie, AstraZeneca, Celgene, Celltrion, Chugai, Eli Lilly, Gilead, ILTOO, Janssen, Novartis-Sandoz, Pfizer Inc, Samsung, Sanofi, Consultant of: AbbVie, AstraZeneca, Celgene, Celltrion, Chugai, Eli Lilly, Gilead, ILTOO, Janssen, Novartis-Sandoz, Pfizer Inc, Samsung, Sanofi


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