scholarly journals Beyond the skin involvement in Darier disease: A complicated neuropsychiatric phenotype

2021 ◽  
Vol 9 (6) ◽  
Author(s):  
Federica Li Pomi ◽  
Alfonso Motolese ◽  
Lucrezia Bertino ◽  
Laura Macca ◽  
Natalia C. Arminio ◽  
...  
Keyword(s):  
Skin Involvement ◽  
Darier Disease

Letter: Acute eruptive Darier disease

1975 ◽  
Vol 111 (9) ◽  
pp. 1215b-1215
Author(s):  
L. Sherwin
Keyword(s):  
Darier Disease

Skin involvement in patients with psoriatic arthritis: preliminary results of treatment with apremilast in real world setting

2019 ◽  
Vol 154 (2) ◽  
Author(s):  
Giulia Radi ◽  
Annamaria Campanati ◽  
Federico Diotallevi ◽  
Elisa Molinelli ◽  
Anna Offidani
Keyword(s):  
Psoriatic Arthritis ◽  
Real World ◽  
Skin Involvement ◽  
Preliminary Results ◽  
Results Of Treatment ◽  
Real World Setting

Mislocalization of Adherens Junction- Associated Proteins in a Patient with Darier Disease

2018 ◽  
Vol 2 (3) ◽  
pp. 184-201
Author(s):  
George D Glinos ◽  
Irena Pastar ◽  
Marjana Tomic-Canic ◽  
Rivka C Stone
Keyword(s):  
Adherens Junction ◽  
Cellular Adhesion ◽  
Calcium Flux ◽  
Keratinocyte Differentiation ◽  
Calcium Dependent ◽  
Endoplasmic Reticulum Calcium ◽  
Darier Disease ◽  
Associated Proteins ◽  
Attachment Proteins ◽  
E Cadherin

Darier disease (DD) is an autosomal dominant keratinizing genodermatosis that manifests clinically with red-brown pruritic papules in a seborrheic distribution often in association with palmoplantar pits and dystrophic nail changes. It is caused by mutation in ATP2A2 which encodes a sarco/endoplasmic reticulum calcium ATPase isoform 2 (SERCA2) pump that regulates calcium flux. Consequent alteration of intracellular calcium homeostasis is thought to impair trafficking of cellular adhesion proteins and to lead to aberrant keratinocyte differentiation, contributing to the characteristic histopathologic features of acantholysis and dyskeratosis in DD, though the precise mechanisms are incompletely understood. Previous studies have identified defective localization of desmosomal attachment proteins in skin biopsies and cultured keratinocytes from DD patients, but reports of effects on adherens junction proteins (including calcium-dependent E-cadherin) are conflicting. Here we describe a case of DD presenting with characteristic clinical and histologic features in which we performed immunofluorescence staining of four adherens junction-associated proteins (E-cadherin, α-catenin, β-catenin, and vinculin). In lesional (acantholytic) DD skin, we identified loss of distinctive bright membranous staining that was present at the periphery of keratinocytes throughout the epidermis in the healthy skin of a matched donor. Perilesional (non-acantholytic) portions of DD skin partially recapitulated the normal phenotype. Our findings support a role for SERCA2 dysfunction in impaired assembly of adherens junctions, which together with defective desmosomes contribute to acantholysis in DD.

scholarly journals Complete eradication of chronic lymphocytic leukemia with unusual skin involvement of high mitotic index after time‐limited venetoclax/obinutuzumab treatment

2021 ◽  
Vol 9 (7) ◽  
Author(s):  
Maria Dimou ◽  
Theodoros Iliakis ◽  
Vasileios Paradalis ◽  
Aikaterini Bitsani ◽  
Marie‐Christine Kyrtsonis ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Mitotic Index ◽  
Lymphocytic Leukemia ◽  
Skin Involvement ◽  
Complete Eradication

scholarly journals AB0603 PDGFΑ AS A POTENTIAL BLOOD MARKER IN DSSC

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1598.3-1598
Author(s):  
K. Romanowska-Prochnicka ◽  
A. Wajda ◽  
A. Paradowska-Gorycka ◽  
A. Felis-Giemza ◽  
E. Walczuk ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Late Phase ◽  
Mrna Level ◽  
Method Comparison ◽  
Active Phase ◽  
Ground Glass ◽  
Skin Involvement ◽  
Blood Marker ◽  
Spearman Test ◽  
Non Parametric

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

Skin Involvement in Multiple Myeloma Demonstrated on FDG PET/CT

2021 ◽  
Author(s):  
Selin Kesim ◽  
Kevser Oksuzoglu ◽  
Salih Ozguven ◽  
Tunc Ones ◽  
Leyla Cinel ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Fdg Pet ◽  
Skin Involvement ◽  
Pet Ct ◽  
Fdg Pet Ct

scholarly journals Role of Multiple Comorbidities and Therapies in Conditioning the Clinical Severity of DRESS: A Mono-Center Retrospective Study of 25 Cases

2021 ◽  
Vol 22 (13) ◽  
pp. 7072
Author(s):  
Andrea Toniato ◽  
Chiara Gamba ◽  
Jan Walter Schroeder ◽  
Valeria Fabbri ◽  
Scarlett Valeria Bernal Ortiz ◽  
...  
Keyword(s):  
Risk Factors ◽  
Drug Reaction ◽  
Retrospective Study ◽  
Clinical Severity ◽  
Severe Reaction ◽  
Skin Involvement ◽  
Inflammatory State ◽  
Reaction Severity ◽  
Clinical Conditions

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.

Secondary Skin Involvement in Classic Hodgkin Lymphoma: Results of an International Collaborative Cutaneous Lymphoma Working Group Study of 25 Patients

2021 ◽  
Author(s):  
Alejandro A. Gru ◽  
Carlos E. Bacchi ◽  
Melissa Pulitzer ◽  
Govind Baghat ◽  
Werner Kempf ◽  
...  
Keyword(s):  
Hodgkin Lymphoma ◽  
Working Group ◽  
Cutaneous Lymphoma ◽  
Skin Involvement ◽  
Classic Hodgkin Lymphoma ◽  
International Collaborative

scholarly journals Breast carcinoma with noninflammatory skin involvement (T4b)

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

scholarly journals SERCA2 Dysfunction in Darier Disease Causes Endoplasmic Reticulum Stress and Impaired Cell-to-Cell Adhesion Strength: Rescue by Miglustat

2014 ◽  
Vol 134 (7) ◽  
pp. 1961-1970 ◽  
Author(s):  
Magali Savignac ◽  
Marina Simon ◽  
Anissa Edir ◽  
Laure Guibbal ◽  
Alain Hovnanian
Keyword(s):  
Endoplasmic Reticulum ◽  
Cell Adhesion ◽  
Endoplasmic Reticulum Stress ◽  
Adhesion Strength ◽  
Darier Disease ◽  
Cell To Cell Adhesion
Sign in / Sign up

Export Citation Format

Share Document