scholarly journals Genes of Congenital Dermatologic Disorders in Dogs—A Review

2021 ◽  
Vol 65 (4) ◽  
pp. 38-46
Author(s):  
Z. Malinovská ◽  
E. Čonková
Keyword(s):  
Lupus Erythematosus ◽  
Skin Diseases ◽  
Keratoconjunctivitis Sicca ◽  
Gene Variant ◽  
Specific Group ◽  
Genetic Tests ◽  
Veterinary Practice ◽  
Dermoid Sinus ◽  
Purebred Dogs ◽  
Sebaceous Adenitis

Abstract This article presents an overview of up-to-date identified genes responsible for congenital canine skin diseases of dogs and the characteristics of these diseases. Congenital skin diseases constitute a specific group of dermatologic disorders that plays an important role in breeding of purebred dogs. They include primary seborrhoea, ichthyosis, hereditary nasal parakeratosis, dermatomyositis, colour dilution alopecia, skin mucinosis, dermoid sinus, lethal acrodermatitis, acral mutilation syndrome, keratoconjunctivitis sicca, ichthyosiform dermatosis, bullous epidermolysis, exfoliative dermal lupus erythematosus, congenital footpad hyperkeratosis and sebaceous adenitis. In the majority of cases, their occurrence is linked to particular breeds. In more than half of these diseases a specific defective gene variant responsible for the disease has been identified. Genetic tests for identification of the relevant defective genes serve as an important tool in the diagnostics of diseases in veterinary practice and in breeding of purebred dogs.

scholarly journals OP0102 GENE SCREENING OF PRIMARY IMMUNODEFICIENCY DISEASES IN PATIENTS WITH JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 66.2-66
Author(s):  
J. LI ◽  
W. Wang ◽  
C. Y. Wang ◽  
J. Y. Pan ◽  
H. Song
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Primary Immunodeficiency ◽  
Lupus Erythematosus ◽  
Gene Sequencing ◽  
Primary Immunodeficiency Disease ◽  
Type I ◽  
Cmv Infection ◽  
Systemic Lupus ◽  
Genetic Tests ◽  
Immunodeficiency Disease

Background:Systemic lupus erythematosus (SLE) is one of the most common auto-immune diseases in childhood. Primary immunodeficiency disease (PID) patients may present or combine with autoimmune diseases.Objectives:This study aimed to perform gene sequencing via high-throughput sequencing technology in a series of Chinese pediatric SLE patients, and investigate the concomitant situation of PIDs and SLE. Gene sequencing results may help clarify the pathogenesis of SLE.Methods:This was a retrospective case series of SLE children who referred to the Peking Union Medical College Hospital between 01/2016 and 09/2019. Genetic tests were performed in patients who met the inclusion criteria. We then collected demographic, clinical, and treatment information of all involved patients. Descriptive statistics were used.Results:Seventy-one patients were finally included (eighteen boys and fifty-three girls). The median age at the time of disease onset was 9.5 (range, 3-15) years. It is notable that five patients experienced their first attack before the age of five. Twenty-seven patients showed a persistent increase in ESR during treatment, while thirteen cases presented with repeated CMV infection, thirty-four cases with persistent low complement levels, seven with basal ganglia calcification showed in skull CT or MRI, four with special type of rash (i.e., frostbite-like rash, discoid erythema, reticular erythema), two with obvious hepatosplenomegaly, and one case with type I diabetes. Gene sequencing results showed that about ten patients combine with primary immunodeficiency disease, including Aicardi-Goutières Syndrome (AGS) (n=4), Spondyloenchondro-dysplasia with immune dysregulation (SPENCDI) (n=1), STING-associated vasculopathy with onset in infancy (SAVI) (n=1), lysinuric protein intolerance (LPI) (n=1), Ras-associated autoimmune leukoproliferative disorder (RALD) (n=2).Conclusion:SLE patients who present atypical or refractory manifestations should attach importance to the existence of primary immunodeficiency disease. Genetic tests are recommended for patients with early-onset SLE, especially those with recurrent frostbite-like rash or persistent CMV infection since childhood.References:[1]T Tarr, B Dérfalvi, N Győri, et al. Similarities and differences between pediatric and adult patients with systemic lupus erythematosus[J]. Lupus. 2015, 24: 796–803.[2]Gupta S, Louis A G. Tolerance and Autoimmunity in Primary Immunodeficiency Disease: a Comprehensive Review[J]. Clinical Reviews in Allergy & Immunology, 2013, 45(2):162-169.Disclosure of Interests:None declared

scholarly journals Alopecia areata is not a risk factor for heart diseases: A 10-year retrospective cohort study

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0250216
Author(s):  
Heera Lee ◽  
You Chan Kim ◽  
Jee Woong Choi
Keyword(s):  
Cohort Study ◽  
Alopecia Areata ◽  
Lupus Erythematosus ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Skin Diseases ◽  
Heart Diseases ◽  
Hair Follicles ◽  
Inflammatory Skin Diseases ◽  
Increased Risk

Alopecia areata (AA) is an autoimmune skin disease caused by chronic inflammation of hair follicles. Chronic inflammatory skin diseases such as psoriasis and lupus erythematosus can increase the risk of cardiovascular diseases. However, the relationship between AA and heart diseases (HDs) remains unclear. Therefore, we conducted this retrospective cohort study to evaluate the risk of subsequent HDs in patients with AA. We reviewed 3770 cases of AA and from 18,850 age, sex, and income level-matched controls from the National Health Insurance Service-National Sample Cohort. In the subgroup analysis, patients who suffered from alopecia totalis, alopecia universalis, and ophiasis were designated as patients with severe AA and patients having the disease for over a year were designated as patients with long-standing AA. As a result, we found that AA was not associated with a higher risk of heart failure, angina pectoris, or myocardial infarction. There was no significant increase in the risk of overall HD associated with AA (adjusted hazard ratio: 1.17; 95% confidence interval: 0.93–1.48; p = 0.177). Neither the severity nor the duration of AA was related to an increased risk of HDs. During the study period, AA patients did not show a significantly higher cumulative incidence of HDs than controls (log-rank p = 0.157). In conclusion, AA does not increase the risk of HD.

scholarly journals Basophil Recruitment to Skin Lesions of Patients with Systemic Lupus Erythematosus Mediated by CCR1 and CCR2

2017 ◽  
Vol 43 (2) ◽  
pp. 832-839 ◽  
Author(s):  
Qingjun Pan ◽  
Yongmin Feng ◽  
Yanxia Peng ◽  
Hongjiu Zhou ◽  
Zhenzhen Deng ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Migration Rate ◽  
Skin Diseases ◽  
Normal Skin ◽  
Flow Cytometric Analysis ◽  
Skin Lesions ◽  
Skin Tissue ◽  
Systemic Lupus

Background/Aims: Basophils have been reported to infiltrate skin lesions in various skin diseases, but not in systemic lupus erythematosus (SLE). This study investigated basophil infiltration in SLE and its mechanism. Methods: Twenty newly diagnosed SLE patients and twenty healthy controls were enrolled. Nine SLE patients underwent skin biopsies. Flow cytometric analysis the phenotype of peripheral basophils and their migration rate toward RANTES and MCP-1 were analyzed with the transwell culture system, also the expression of these two chemokines in skin tissue were analyzed with immunohistochemistry. Results: Increased activation and decreased numbers of peripheral basophils were observed in SLE patients compared with controls. Basophil migration into skin lesions of SLE patients were observed, but not in normal skin tissue. This migration was related to the upregulation of chemokine receptors CCR1 and CCR2 on basophils. In vitro studies showed that migration rate toward RANTES and MCP-1 increased significantly in basophils from SLE patients compared with those from controls. Consistently, high levels of RANTES and MCP-1 expression were observed in skin lesions from SLE patients but not in normal skin tissue. Conclusion: Basophil recruitment to skin lesions of SLE patients mediated by CCR1 and CCR2, which may contribute to tissue damage in SLE.

scholarly journals 565 Fatigue in systemic lupus erythematosus and other autoimmune skin diseases

2018 ◽  
Vol 138 (5) ◽  
pp. S96
Author(s):  
M. Tarazi ◽  
R.G. Gaffney ◽  
D. Pearson ◽  
C.J. Kushner ◽  
V.P. Werth
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Skin Diseases ◽  
Systemic Lupus

scholarly journals Immunostimulatory Endogenous Nucleic Acids Perpetuate Interface Dermatitis—Translation of Pathogenic Fundamentals Into an In Vitro Model

2021 ◽  
Vol 11 ◽  
Author(s):  
Christine Braegelmann ◽  
Tanja Fetter ◽  
Dennis Niebel ◽  
Lara Dietz ◽  
Thomas Bieber ◽  
...  
Keyword(s):  
Nucleic Acid ◽  
Nucleic Acids ◽  
Chemokine Receptor ◽  
Lupus Erythematosus ◽  
Skin Diseases ◽  
Immune Cell ◽  
Cutaneous Lupus Erythematosus ◽  
Common Mechanism ◽  
Cxc Chemokine

Interface dermatitis is a histopathological pattern mirroring a distinct cytotoxic immune response shared by a number of clinically diverse inflammatory skin diseases amongst which lichen planus and cutaneous lupus erythematosus are considered prototypic. Interface dermatitis is characterized by pronounced cytotoxic immune cell infiltration and necroptotic keratinocytes at the dermoepidermal junction. The initial inflammatory reaction is established by cytotoxic immune cells that express CXC chemokine receptor 3 and lesional keratinocytes that produce corresponding ligands, CXC motif ligands 9/10/11, recruiting the effector cells to the site of inflammation. During the resulting anti-epithelial attack, endogenous immune complexes and nucleic acids are released from perishing keratinocytes, which are then perceived by the innate immune system as danger signals. Keratinocytes express a distinct signature of pattern recognition receptors and binding of endogenous nucleic acid motifs to these receptors results in interferon-mediated immune responses and further enhancement of CXC chemokine receptor 3 ligand production. In this perspective article, we will discuss the role of innate nucleic acid sensing as a common mechanism in the perpetuation of clinically heterogeneous diseases featuring interface dermatitis based on own data and a review of the literature. Furthermore, we will introduce a keratinocyte-specific in vitro model of interface dermatitis as follows: Stimulation of human keratinocytes with endogenous nucleic acids alone and in combination with interferon gamma leads to pronounced production of distinct cytokines, which are essential in the pathogenesis of interface dermatitis. This experimental approach bears the capability to investigate potential therapeutics in this group of diseases with unmet medical need.

scholarly journals Smoking and Skin Diseases: A Crucial Causal Link

2014 ◽  
Vol 41 (2) ◽  
pp. 61-63 ◽  
Author(s):  
N Ahmed ◽  
MZ Islam
Keyword(s):  
Tobacco Smoking ◽  
Lupus Erythematosus ◽  
Chronic Wounds ◽  
Cell Function ◽  
Skin Diseases ◽  
Health Hazard ◽  
Pemphigus Vulgaris ◽  
Causal Link ◽  
Etiologic Factor ◽  
Protective Effects

Tobacco smoking is a serious and preventable health hazard that can cause or exacerbate a number of diseases and shorten life expectancy, but the role of smoking as an etiologic factor in the development of skin disease is largely unknown. Although epidemiological evidence is sparse, findings suggest that tobacco smoking is a contributing factor in systemic lupus erythematosus, psoriasis, palmoplantar pustulosis, cutaneous squamous cell carcinoma, hidradenitis suppurativa, and genital warts. In contrast, smoking may confer some protective effects and mitigate other skin diseases, notably pemphigus vulgaris, pyoderma gangrenosum, aphthous ulcers, and Behçet's disease. Various degenerative dermatologic conditions are also impacted by smoking, such as skin wrinkling and dysregulated wound healing, which can result in post-surgical complications and delayed or even arrested healing of chronic wounds. Most likely, alteration of inflammatory cell function and extracellular matrix turnover caused by smoking-induced oxidative stress are involved in the pathophysiologic mechanisms. DOI: http://dx.doi.org/10.3329/bmj.v41i2.18813 Bangladesh Medical Journal 2012 Vol. 41 No. 2: 61-63

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