Autoimmune Vitiligo Research Articles

Combination of macro-TSH and macroprolactinemia phenomena in a patient with autoimmune thyroiditis and vitiligo

Laboratory diagnostic methods are the main tools in the practice of a doctor of any specialty, including an endocrinologist. Factors were identified that could change the concentration of the biologically active fraction of the test substance, subsequently complicating the interpretation of laboratory results and making the right clinical decision. The literature describes a variety of circulating autoantibodies involved in binding to pituitary hormones (prolactin (PRL), thyroid-stimulating hormone (TSH), growth hormone, luteinizing, follicle-stimulating, and adrenocorticotropic hormones), hypothalamus (vasopressin and oxytocin), pancreas (insulin and glucagon) , parathyroid glands (parathyroid hormone), as well as with thyroid hormones. As a rule, the resulting macromolecules lead to an increase in laboratory parameters, in which the prevailing fraction of the hormone does not have biological activity, which determines the main problem of this phenomenon. The most common variants include immune complexes with PRL and TSH, causing the phenomena of macroprolactinemia and macrothyrotropinemia (macro-TSH-emia/macro-TSH), respectively. Most laboratory test systems used in clinical practice are capable of determining only the total amount of PRL and TSH. The presented clinical observation describes a combination of the phenomena of macro-TSH and macroprolactinemia in a patient with autoimmune thyroiditis (AIT) and vitiligo.

From Phenotype to Molecules: Unveiling the Genetic and Immunological Bridges Between Autoimmune Diseases and Vitiligo.

Vitiligo is an autoimmune disease characterized by the loss of skin pigmentation. This study aims to explore genetic associations between vitiligo and 21 autoimmune diseases using Mendelian randomization (MR) analysis, with a focus on identifying potential risk and protective factors. We performed univariable and multivariable Mendelian randomization analyses to assess the causal associations between 21 autoimmune diseases and vitiligo. Confounding factors, including smoking, alcohol consumption, and Body Mass Index (BMI), were integrated into the multivariable analysis. Strongly associated single nucleotide polymorphisms (SNPs) were mapped to genes, followed by Summary-data-based Mendelian Randomization (SMR) analysis with expression Quantitative Trait Loci (eQTL) and methylation Quantitative Trait Loci (mQTL) data. Risk and protective factors were further identified by evaluating inflammatory mediators and immune cell phenotypes. The MR analysis identified seven autoimmune diseases with potential causal associations with vitiligo. However, after accounting for confounding factors, only Hashimoto's thyroiditis and type 1 diabetes maintained genetic associations with vitiligo. Gene mapping revealed 25 intersecting genes between these two diseases and vitiligo. SMR analysis confirmed Sulfite Oxidase (SUOX) as a protective gene across multiple tissues. Furthermore, several inflammatory factors were identified as risk factors, including C-X-C motif chemokine ligand 9 (CXCL9), C-X-C motif chemokine ligand 10 (CXCL10), Tumor Necrosis Factor (TNF), and Signaling Lymphocytic Activation Molecule (SLAM). In contrast, Osteoprotegerin (OPG) was identified as a protective factor. This study provides novel insights into the shared molecular mechanisms linking vitiligo with other autoimmune diseases. The identification of SUOX as a common protective gene and the discovery of specific inflammatory and immune-related factors may facilitate future therapeutic strategies.

Tetracyclines revisited: tetracyclines in the field of dermatology.

Tetracyclines are a class of broad-spectrum antibiotics favored by dermatologists. Over the last decade, the clinical efficacy of tetracyclines has expanded into various dermatoses. This review tries to encompass the possible indications of tetracycline in the field of dermatology and possible mechanisms of action. This comprehensive review encompasses all possible indications of tetracyclines besides acne vulgaris and rosacea: hidradenitis suppurativa, autoimmune bullous dermatoses, vitiligo, alopecia, prurigo pigmentosa, granulomatous dermatoses, Kaposi sarcoma, cold urticaria, atopic dermatitis, scrub typhus, scarring, and miscellaneous dermatoses. We also focus on the recently approved sarecycline, a third generation narrow-spectrum tetracycline, and its clinical efficacy and potential impact on the microbiome. Our review provides a better understanding of this extremely familiar drug class and encourages its use in a wider spectrum of dermatologic diseases and symptoms.

8131 A Rare Case of Autoimmune Polyendocrine Syndrome; a Menopause Despite Replacement Therapy

Abstract Disclosure: M.E. Chacon Cruz: None. M. Sanchez Cordero: None. R.M. Roman Torres: None. G. Guerra Velazquez: None. Polyendocrinopathy is a heterogeneous group of disorders leading to dysfunction of multiple endocrine glands and other tissues. The syndromes can occur in patients from early infancy to old age and new components of a given syndrome can appear throughout life. APS can be classified into APS type 1 and APS2-4. APS-1 is a rare monogenic autosomal recessive autoimmune disorder consisting of the triad of chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. APS2 require presence of Addison disease, autoimmune thyroid disorder and type 1 diabetes. APS 3 requires presence of Thyroid autoimmune disease associated with other autoimmune diseases. APS4 is a combination of organ specific autoimmune disease non included in a previous group. Autoimmune oophoritis is found in approximately 4 percent of females who presented with spontaneous primary ovarian insufficiency and may occur in type I and II syndromes of polyglandular autoimmune failure. This is the case of 44 year old female patient with history of hypertension, hypoparathyroidism diagnose at the age of 9 year old, vitiligo and premature ovarian failure diagnose at the age of 16 year old. Patient reported that started with multiple episodes of watery non bloody diarrhea and arthralgia. Patient went to her Pediatrician and they found hypocalcemia hyperphospathemia. Patient mineral was replaced with medication and then followed by pediatric endocrinologist. Patient continues with normal life, but menstrual periods had not started even at age 16th. Laboratory work up was done and premature ovarian failure was diagnosed after that, patient started with progesterone and estrogen to induce menstrual periods. Menstrual periods began regularly and monthly. Patient continues taking medication regularly, phoslo, calcitriol, progestin and estradiol without problem until this year that despite regular medication, started with signs and symptoms of menopause with irregular menstrual periods, palpitations hot flashes, sweating, anxiety and sleep problems. Patient met criteria for APS4 due to combination of organ specific autoimmune disease such premature ovarian failure, vitiligo and hypoparathryroidism. This case is extremely important since despite the fact that there is no family history of either endocrinological or autoimmune diseases, our patient debuts throughout her life with several autoimmune diseases, such as premature ovarian failure and vitiligo. Patient had Schedule appointment with gynecologist who increased the dose of progestin and estradiol. This case highlights the importance of being vigilant about new components of a syndrome developing at different times though a patient's life. As described, autoimmune diseases commonly are related to other diseases, but without a good clinical history and physical examination could be misdiagnosed affecting the quality of life of those patients. Presentation: 6/2/2024

Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo.

Vitiligo is a common autoimmune disease characterized by patches of depigmented skin and overlying hair due to destruction of melanocytes in the involved regions. We investigated the relationship between vitiligo risk and vitiligo age of onset (AOO) using a vitiligo polygenic risk score that incorporated the most significant SNPs from genome-wide association studies. We find that vitiligo genetic risk and AOO are strongly inversely correlated; subjects with higher common-variant polygenic risk tend to develop vitiligo at an earlier age. Nevertheless, the correlation is not simple. In individuals who carry a single high-risk major histocompatibility complex class II haplotype, the effect of additional polygenic risk on vitiligo AOO is reduced. Particularly among those with early-AOO vitiligo (onset ≤12 years of age), genetic risk can reflect contributions from high common-variant burden but also rare variants of high effect and sometimes both. While the heritability of vitiligo is relatively high, and we here show that genetic risk factors predict vitiligo AOO, vitiligo is never congenital, and thus environmental triggers also play an important role in disease onset.

Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review.

Autoimmune skin disorders, including Psoriasis, Lichen Planus, Vitiligo, Atopic Dermatitis, and Alopecia Areata, arise from a combination of genetic predisposition, external factors, and immunological dysfunction. It is well-documented that there is a strong correlation between autoimmune thyroid diseases and a range of dermatological disorders, especially urticaria. This review investigates possible links between autoimmune thyroiditis and a broader spectrum of autoimmune skin conditions, analyzing shared genetic markers, immunological mechanisms, and clinical correlations. Common pathogenic mechanisms include disrupted immune tolerance and oxidative stress, leading to chronic inflammation. Genetic factors, such as IL-23 receptor gene variants, increase the risk for Psoriasis, Alopecia Areata, and Hashimoto's thyroiditis. Additionally, CTLA-4 mutations enhance susceptibility to autoimmune thyroid and skin disorders. Shared genetic susceptibility was also reported in Lichen Planus and Vitilgo, even if different genetic loci might be involved. The breakdown of the immune system can determine a pro-inflammatory state, facilitating the development of autoimmunity and auto-antibody cross-reactions. The presence of similar antigens in skin cells and thyrocytes might explain why both tissues are affected. The significant overlap between these conditions emphasizes the necessity for a comprehensive diagnosis workup and treatment. Future research should focus on clarifying specific immunological pathways and identifying novel biomarkers.

A case of multiple autoimmune syndrome comprising autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus

A case of multiple autoimmune syndrome comprising autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus

FRI568 Hashimoto’s Thyroiditis With Negative Antibodies In Association With Common Variable Immunodeficiency

Abstract Disclosure: I.C. Ebrahim: None. K.F. Brown: None. N.O. Vietor: None. T.D. Hoang: None. M.K. Shakir: None. Introduction: Common variable immunodeficiency (CVID) is associated with several autoimmune manifestations including Hashimoto’s thyroiditis (HT). We report a 47-year-old male with CVID and HT with negative thyroid antibodies (Abs). Case Report: A 47-year-old male, while undergoing coronary calcium scan in 2021, was found to have scattered lung nodules. Follow-up Ct scans showed interval increase in size of lung nodules and a PET scan confirmed bilateral lung nodules which demonstrated hypermetabolic activity and scattered hypermetabolic lymph nodes, suggesting infectious or inflammatory processes. PET scan also revealed thyromegaly with diffusely increased uptake, suggesting thyroiditis. Serum immunoglobulins were measured: IgA < 5 mg/dL (normal 70-400), IgG 334 mg/dL (normal 700-1600), and IgM < 25 mg/dL (normal 40-230). Serum immunoglobulins levels from depository serum samples collected in 2005 also showed similarly low values. CBC was normal, excluding any bone marrow disorders. There was no family history of immunodeficiency or thyroid disorders. On review of systems patients did not have any symptoms of hypothyroidism. Exam: thyroid 50-gms diffusely enlarged with no palpable nodules; heart and lung exam was normal. Laboratory tests including comprehensive metabolic panel, serum complement CH 50, leukemia/lymphoma panel, T/B - lymphocyte/Natkiller, CRP were all normal. Thyroid functions: TSH 5.6 mc1U/mL (0.27-4.2), Free T4 1.20 ng/dL (0.93-1.71), TPO Ab < 9 IU/mL (0-34), TG Ab < 1.0 1U/mL (0.0-0.9), thyrotropin receptor Ab < 0.3 IU/L (<1.0), thyroid stimulating immunoglobulin < 0.10 1U/L (0.06-0.55). Serum thyroid Ab levels from depository samples collected in 2005 also showed normal values. FNA of thyroid showed atypical lymphoid infiltrates and an excision biopsy of the thyroid isthmus confirmed lymphocytic thyroiditis. A PET avid right inguinal lymph node biopsy showed a reactive lymph node. Additional lab evaluation also showed low post vaccination pneumococcal titers. With pan-hypoglobulinemia and low vaccine response, a diagnosis of CVID was made. Patient preferred watchful waiting than iv immunoglobulin therapy. Additionally, the patient has HT with negative thyroid Abs and although patient had mild subclinical hypothyroidism patient elected no treatment. Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency in adults. Autoimmune manifestations occur in 22% of CVID patients and these include autoimmune cytopenia, pernicious anemia, rheumatoid arthritis, vitiligo, and/or HT. Interestingly, our patient did not manifest any thyroid Abs thus it may be postulated that thyroid follicles destruction in HT is mediated predominantly by thyroid-specific B and T cells rather than by thyroid antibodies. Presentation: Friday, June 16, 2023

Case report: Drug-induced vitiligo during treatment with BRAF/MEK inhibitors in a patient with metastatic conjunctival melanoma.

Autoimmune side effects can be detected during the use of BRAF/MEK inhibitor. Although its frequency, mechanism and importance are not known exactly, there are cases reported in the literature. We report a case of drug-induced vitiligo in a patient with metastatic conjunctival malignant melanoma who was treated with BRAF/MEK inhibition therapy. In the case, vitiligo was controlled with topical treatments. Follow-up process of the patient has been continuing with no progression on month 12 of the current treatment. Although ICI-related autoimmune side effects and vitiligo have been described more frequently, vitiligo may also occur secondary to BRAK/MEK inhibition. This case also points out that cutaneous toxicity is manageable with no delay in treatment thanks to collaboration of dermatologists and oncologists.

The Essential Role of microRNAs in Inflammatory and Autoimmune Skin Diseases-A Review.

The etiopathogenesis of autoimmune skin diseases is complex and still not fully understood. The role of epigenetic factors is emphasized in the development of such diseases. MicroRNAs (miRNAs), a group of non-coding RNAs (ncRNAs-non-coding RNAs), are one of the important post-transcriptional epigenetic factors. miRNAs have a significant role in the regulation of the immune response by participating in the process of the differentiation and activation of B and T lymphocytes, macrophages, and dendritic cells. Recent advances in research on epigenetic factors have provided new insights into the pathogenesis and potential diagnostic and therapeutic targets of many pathologies. Numerous studies revealed a change in the expression of some microRNAs in inflammatory skin disorders, and the regulation of miRNA expression is a promising therapeutic goal. This review presents the state of the art regarding changes in the expression and role of miRNAs in inflammatory and autoimmune skin diseases, including psoriasis, atopic dermatitis, vitiligo, lichen planus, hidradenitis suppurativa, and autoimmune blistering diseases.

Biológiai és célzott terápiák bőrpathologiai vonatkozásai a mindennapi gyakorlatban

Biological and targeted therapies are the most up-todate treatment modalities in numerous inflammatory and neoplastic cutaneous diseases however they can induce adverse events. Among them skin adverse reactions are very frequent and can draw the attention to other organ’s involvement. Skin symptoms are variable and not specific for the causative agent. Lichenoid and maculopapulous reactions, psoriasiform dermatitis, autoimmune skin disease, vitiligo and granulomatous reaction can all be developed. In order to establish the proper histological diagnosis pathologist should be aware of the treatment and the possible skin symptoms caused by it. Authors describe such cutaneous adverse reactions through case presentations.

Evaluation of ovarian reserves in women suffering from an autoimmune disease vitiligo.

In this study, we aimed to investigate whether vitiligo, an autoimmune disease, affects the ovarian reserves of women suffering from this disease. This case-control study included 27 vitiligo patients and 44 healthy participants with regular menstrual cycles. The total number of participants was 71. We conducted the study in a tertiary hospital between June 2022 and November 2022. We carried out the study after receiving the Ethics Committee Approval of the same institute, numbered KAEK/2022.04.88. Before the study, we obtained informed consent from all the participants included in our study. We complied with the Declaration of Helsinki at all stages of the study. We compared the study groups' demographic information, hormonal parameters, ovarian volumes, and antral follicle numbers. We performed an independent t-test to compare group means. We used SPSS for Windows 24.0 (IBM Corp., Armonk, NY, USA) for the analyses. We considered the p-value lower than 0.05 to be statistically significant. AMH values were 2.66±1.76 pmol/L in the control group and 1.61±0.86 pmol/L in the patient group. The total number of antral follicles was 10.25±2.13 (n) in the control group and 9.26±2.97 (n) in the study group. Ovarian volume was 11.57±1.37 ml in the control group and 10.63±1.96 ml in the study group. These results were statistically significantly different. We detected one premature ovarian failure (POI) in the study group. Although there was only one case, this difference between the groups was statistically significant. Our study has proven that the ovaries of women of reproductive age suffering from any disease with an autoimmune etiology are affected by this autoimmune process. Therefore, ovarian reserves should be evaluated in all fertile women with autoimmune diseases. Due to the evaluation, appropriate treatment and follow-up plans should be made in patients with infertility or premature ovarian failure (POF) risk.

Expression Signature of Immune-Related MicroRNAs in Autoimmune Skin Disease: Psoriasis and Vitiligo Insights.

Psoriasis and vitiligo are both chronic, skin-specific diseases classified as autoimmune diseases due to the involvement of several biochemical pathways in their pathogenesis, similar to those altered in other autoimmune diseases. The role of miRNAs in regulating skin autoimmune function has yet to be fully characterized. The aim of this study was to assess the expression profile of a panel of 11 circulating immune-related miRNAs in patients with autoimmune skin diseases, specifically psoriasis and vitiligo, and correlate their expression signature with the clinicopathological features of the diseases. Relative gene expression quantification for 11 immune-related circulating miRNAs in plasma was done for 300 subjects-100 patients with psoriasis, 100 patients with vitiligo and 100 normal healthy volunteers-followed by different modalities of bioinformatics analysis for the results. The expression levels of all the studied immune-related miRNAs were elevated in both autoimmune skin disorders, with much higher levels of expression in psoriasis than in vitiligo patients. There was a significant correlation between most of the studied miRNAs, suggesting shared target genes and/or pathways. Moreover, all the studied miRNAs showed significant results as biomarkers for autoimmune skin disease, with miRNA-145 being the best candidate. Regarding the clinicopathological data, miRNA-7, miRNA-9, miRNA-145, miRNA-148a, and miRNA-148b were positively correlated with age. All the miRNAs were inversely correlated with obesity and disease duration. This study highlights the critical role of miRNAs in skin-specific autoimmune diseases that proved to be potential biomarkers for autoimmune skin disorders, warranting their exploration as therapeutic targets.

NRF2 in the Epidermal Pigmentary System.

Melanogenesis is a major part of the environmental responses and tissue development of the integumentary system. The balance between reduction and oxidation (redox) governs pigmentary responses, for which coordination among epidermal resident cells is indispensable. Here, we review the current understanding of melanocyte biology with a particular focus on the "master regulator" of oxidative stress responses (i.e., the Kelch-like erythroid cell-derived protein with cap'n'collar homology-associated protein 1-nuclear factor erythroid-2-related factor 2 system) and the autoimmune pigment disorder vitiligo. Our investigation revealed that the former is essential in pigmentogenesis, whereas the latter results from unbalanced redox homeostasis and/or defective intercellular communication in the interfollicular epidermis (IFE). Finally, we propose a model in which keratinocytes provide a "niche" for differentiated melanocytes and may "imprint" IFE pigmentation.

Prevalence, comorbidities, and treatment patterns of Japanese patients with alopecia areata: A descriptive study using Japan medical data center claims database.

Real-world data on alopecia areata (AA) demographics, comorbidities, and treatment patterns are sparse, not only in Japan but worldwide. This cross-sectional study assessed the current prevalence of AA in Japan, including analysis of severe subsets, frequency of comorbidities, and unmet medical needs surrounding treatment. Patients registered in the Japan Medical Data Center claims database (January 2012 to December 2019) and diagnosed with AA were included. Prevalence was calculated yearly, with the most common comorbidities evaluated, and treatments described in the Japanese Dermatological Association AA management guidelines and approved in Japan were included in the analysis. In total, 61 899 patients were diagnosed with AA. Among them, 1497 were diagnosed with severe subtypes. AA prevalence in Japan has been gradually increasing (from 0.16% in 2012 to 0.27% in 2019). The most common comorbidities are allergic rhinitis, atopic dermatitis, and asthma. Depression and anxiety are frequent in these patients, as are autoimmune diseases, e.g., vitiligo, thyroid diseases, and rheumatoid arthritis. Intriguingly, the analysis found Down syndrome to be a comorbidity associated with severe AA in children. The principal treatments were topical corticosteroids, followed by carpronium chloride and cepharanthine. The use of systemic corticosteroids and antihistamines is increased in severe disease. The Japanese Dermatological Association guidelines do not support the use of oral corticosteroids in children; however, in the database, this has been prescribed in up to 2.5% and 9.8% of all pediatric and severe pediatric AA cases, respectively. Despite the limitations of using a claims database, the current study demonstrates that AA prevalence in Japan has gradually increased in recent years, with allergic diseases being the most common comorbidities. The data also imply that there is a need for effective and safe therapies, especially for severe and pediatric cases.

The role of cytokines and vitamin D in vitiligo pathogenesis.

Vitiligo is a pigment-related disease with a global prevalence of 0.2% to 1.8% associated with considerable burden on quality of life. The treatment is still a challenge because of relapses and/or incomplete re-pigmentation. Although the exact cause is still unclear, its pathogenesis seems to be justifiable with the autoimmune theory, supported by the results of clinical research. In this narrative review, we aimed to summarize the evidence related to cytokines and vitiligo development. This review is consisted of English articles published in PubMed and Google Scholar concerning levels of inflammatory mediators, especially interleukins, in vitiligo patients over the last 20 years. References of relevant articles were also considered for review. Crucial role of dysregulated levels of interleukins and their synergistic function to each other, in the onset or progression of the disease is evident. The theory of autoimmune vitiligo is reinforced by the results of the studies in the literature, due to the association of pathogenesis with increased secretion of pro-inflammatory mediators and reduction of anti-inflammatory mediators. Decreased vitamin D levels may have a considerable role in vitiligo development by affecting Th1- and Th17-related immune responses. Cytokines play an important role in the pathogenesis or progression of the disease. Moreover, we believe that decreased vitamin D level has a considerable role in vitiligo development by affecting Th1- and Th17-related immune responses.

The humanistic burden of vitiligo: a systematic literature review of quality-of-life outcomes.

Despite historical mischaracterization as a cosmetic condition, patients with the autoimmune disorder vitiligo experience substantial quality-of-life (QoL) burden. This systematic literature review of peer-reviewed observational and interventional studies describes comprehensive evidence for humanistic burden in patients with vitiligo. PubMed, EMBASE, Scopus and the Cochrane databases were searched through February 10, 2021, to qualitatively assess QoL in vitiligo. Two independent reviewers assessed articles for inclusion and extracted data for qualitative synthesis. A total of 130 included studies were published between 1996 and 2021. Geographical regions with the most studies were Europe (32.3%) and the Middle East (26.9%). Dermatology-specific instruments, including the Dermatology Life Quality Index (DLQI; 80 studies) and its variants for children (CDLQI; 10 studies) and families (FDLQI; 4 studies), as well as Skindex instruments (Skindex-29, 15 studies; Skindex-16, 4 studies), were most commonly used to measure humanistic burden. Vitiligo-specific instruments, including the Vitiligo-specific QoL (VitiQoL; 11 studies) instrument and 22-item Vitiligo Impact Scale (VIS-22; 4 studies), were administered in fewer studies. Among studies that reported total scores for the overall population, a majority revealed moderate or worse effects of vitiligo on patient QoL (DLQI, 35/54 studies; Skindex, 8/8 studies; VitiQoL, 6/6 studies; VIS-22, 3/3 studies). Vitiligo also had a significant impact on the QoL of families and caregivers; 4/4 studies reporting FDLQI scores indicated moderate or worse effects on QoL. In general, treatment significantly (P < 0.05) improved QoL, but there were no trends for types or duration of treatment. Among studies that reported factors significantly (P ≤ 0.05) associated with reduced QoL, female sex and visible lesions and/or lesions in sensitive areas were most common. In summary, vitiligo has clinically meaningful effects on the QoL of patients, highlighting that greater attention should be dedicated to QoL decrement awareness and improvement in patients with vitiligo.

Immune Activities in Choroids of Visually Impaired Smyth Chickens With Autoimmune Vitiligo.

Vitiligo is a common dermatological disorder affecting 1–2% of the world’s population. It is characterized by postnatal, autoimmune destructions of melanocytes in the skin, resulting in patches of depigmentation. Autoimmunity in vitiligo may also affect melanocytes in non-integumental tissues, including the eyes where choroidal melanocytes are the target of the autoimmune response. The Smyth line (SL) of chicken is the only animal model that spontaneously and predictably develops all clinical and biological manifestations of autoimmune vitiligo. In SL vitiligo (SLV), destruction of epidermal melanocytes in growing feathers (GFs) involves a melanocyte-specific, Th1-mediated cellular immune response. Smyth chickens may also exhibit uveitis and vision impairment. Previous studies established a strong association between SLV and vision impairment, including similar pathology in affected eyes and GFs. To determine the presence, types, and activities of choroid infiltrating mononuclear cells, we collected eyes before, near onset, and during active SLV from sighted, partially blind, and blind SL chickens. All SL chickens with vision impairment had SLV. Immunohistochemistry and quantitative reverse transcriptase-PCR analyses revealed mononuclear cell and cytokine expression profiles in the autoimmune destruction of melanocytes in choroids that are identical to those described in GF, demonstrating the systemic nature of autoimmunity against melanocytes in SLV. In addition, we observed aberrant melanogenesis in SL eyes. The immunopathogenesis in SL vision impairment resembles human vitiligo-associated ocular diseases, especially Vogt–Koyanagi–Harada syndrome and sympathetic ophthalmia. Hence, the Smyth chicken autoimmune vitiligo model provides the opportunity to expand our understanding of spontaneous autoimmune pigmentation disorders and to develop effective treatment strategies.

Obsessive-compulsive disorder and the associated risk of autoimmune skin diseases: a nationwide population-based cohort study.

The concurrent incidence of autoimmune comorbidities in obsessive-compulsive disorder (OCD) is known. However, the association between OCD and related autoimmune skin diseases (ASDs) has not been well studied. This study aimed to investigate the association between OCD and the risk of ASDs. To assess the risk of developing ASDs, we recruited 44324 patients with OCD and 177296 matched controls from the National Health Insurance Research Database in Taiwan. A Cox regression model was used for the analyses. After adjusting for confounders, an increased risk of ASDs among the patients with OCD (adjusted hazard ratio [aHR]: 6.36; 95% confidence interval [CI]: 5.43-7.45) was found when compared to the controls. Statistically significant associations were found between OCD and seven individual ASDs, including psoriasis (aHR: 12.52; 95% CI: 8.78-17.85), lichen planus (aHR: 27.22; 95% CI: 13.09-56.60), alopecia areata (aHR: 13.69; 95% CI: 9.38-19.98), autoimmune bullous diseases (aHR: 4.30; 95% CI: 2.03-9.11), hidradenitis suppurativa (aHR: 29.95; 95% CI: 3.35-267.62), vitiligo (aHR: 9.35; 95% CI: 5.35-16.32), and lupus erythematosus (aHR: 2.10; 95% CI: 1.52-2.91). Patients with OCD had an increased risk of developing ASDs compared to matched controls. Further studies are required to clarify the underlying mechanisms.

Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis

BackgroundIn horses, the autoimmune disease vitiligo is characterized by the loss of melanocytes and results in patchy depigmentation of the skin around the eyes, muzzle and the perianal region. Vitiligo-like depigmentation occurs predominantly in horses displaying the grey coat colour and is observed at a prevalence level of 26.0–67.0% in grey horses compared with only 0.8–3.5% in non-grey horses. While the polygenetic background of this complex disease is well documented in humans, the underlying candidate genes for this skin disorder in horses remain unknown. In this study we aim to perform a genome-wide association study (GWAS) for identifying putative candidate loci for vitiligo-like depigmentation in horses.MethodsIn the current study, we performed a GWAS analysis using high-density 670 k single nucleotide polymorphism (SNP) data from 152 Lipizzan and 104 Noriker horses, which were phenotyped for vitiligo-like depigmentation by visual inspection. After quality control 376,219 SNPs remained for analyses, the genome-wide Bonferroni corrected significance level was p < 1.33e-7.ResultsWe identified seven candidate genes on four chromosomes (ECA1, ECA13, ECA17, ECA20) putatively involved in vitiligo pathogenesis in grey horses. The highlighted genes PHF11, SETDB2, CARHSP1 and LITAFD, are associated with the innate immune system, while the genes RCBTB1, LITAFD, NUBPL, PTP4A1, play a role in tumor suppression and metastasis. The antagonistic pathogenesis of vitiligo in relation to cancer specific enhanced cell motility and/or metastasis on typical melanoma predilection sites underlines a plausible involvement of RCBTB1, LITAFD, NUBPL, and PTP4A1.ConclusionsThe proposed candidate genes for equine vitiligo-like depigmentation, indicate an antagonistic relation between vitiligo and tumor metastasis in a horse population with higher incidence of melanoma. Further replication and expression studies should lead to a better understanding of this skin disorder in horses.