Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We observed 5 patients with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) who were unusual, in that they also exhibited features of lupus erythematosus (LE). This observation is in keeping with a recent study that reported an increased rate of autoimmune disease, including systemic lupus erythematosus (SLE), among patients with SPTCL. In all cases, attributes indicating SPTCL included an infiltrate of lymphocytes with pleomorphic nuclei involving subcutaneous lobules exhibiting a cytotoxic T-cell (CD3/CD8/betaF1) immunophenotype. Additionally, a high proliferation rate and a monoclonal T-cell receptor-gamma gene rearrangement were observed in most cases. The manifestations of LE in these patients included a spectrum of clinical and histopathological abnormalities. Clinical manifestations of LE included, in some patients, morphologic evidence of lupus erythematosus panniculitis (LEP) with subcutaneous nodules that healed with lipoatrophy on the face. In addition, all the patients exhibited serologic and/or extracutaneous end-organ abnormalities seen in patients with SLE, with 2 patients having sufficient findings to meet American College of Rheumatology criteria for SLE. Histopathological evidence of LE included vacuolar change at the dermal-epidermal interface in 3 patients, 2 of whom also showed interstitial deposition of mucin in the reticular dermis. One of these patients also had findings of LEP in the subcutaneous lobules with clusters of CD20 B cells partially arranged within germinal centers. In 2 patients in which neither the epidermis nor dermis was available for review, histopathological features of LE included, in one patient, a few small clusters of CD123 plasmacytoid dendritic cells within the adipose tissue and, in the other patient, a positive direct immunofluorescence test (lupus band) on clinically uninvolved and lesional skin. Our study shows that some patients show overlap between SPTCL and LE. We suspect that these patients may suffer from both diseases concomitantly. Furthermore, patients with LE, particularly LEP, should be monitored for evolution into SPTCL with biopsy of any subcutaneous lesion that is not typical of LEP. Additionally, screening for cutaneous LE and SLE could be considered in patients with SPTCL.
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PMID:Subcutaneous panniculitis-like T-cell lymphoma with overlapping clinicopathologic features of lupus erythematosus: coexistence of 2 entities? 1959 Apr 24

T-cell immunoglobulin- and mucin-domain-containing molecule-3 (TIM-3) was the first surface molecule that specifically identifies Th1 cells in both mice and human. Recently, identification of Galectin-9 as a ligand for TIM-3 has established the TIM-3-Galectin-9 pathway as an important regulator of Th1 immunity and tolerance induction. Many previous studies have demonstrated that TIM-3 influences chronic autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. In addition, association of TIM-3 polymorphisms with susceptibility to several autoimmune diseases has been identified. Recent work has explored the role of TIM-3 in systemic lupus erythematosus (SLE), and their results indicate that TIM-3 may represent a novel target for the treatment of SLE. In this review, we will discuss the TIM-3 pathway and the therapeutic potential of modulating the pathway in SLE.
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PMID:TIM-3 as a new therapeutic target in systemic lupus erythematosus. 1976 75

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease. Innate and adaptive immunity cooperatively contribute to the development of SLE. Antigen-presenting cells (APCs) have been suggested to link innate and adaptive immunity. T-cell immunoglobulin- and mucin-domain-containing molecule-4 (Tim-4; also known as Timd4), expressed primarily on the surface of APCs, is a member of the TIM family, a recently described group of molecules that have received much attention as potential regulators of the immune system. In this study, we used quantitative real-time reverse transcription-polymerase chain reaction to examine the mRNA expression of Tim-4 in peripheral blood mononuclear cells (PBMCs) from SLE patients and further analyzed the correlation between the expression of Tim-4 and Tim-1 (a potential ligand for Tim-4) in PBMCs and serum tumor necrosis factor (TNF)-alpha levels. The results showed that Tim-4 mRNA expression in PBMCs was significantly higher in SLE patients than in healthy controls, especially those patients in the active phase of disease. Moreover, Tim-4 mRNA levels were closely correlated with Tim-1 mRNA levels in PBMCs and with serum TNF-alpha levels in SLE patients but not in the control group. Taken together, these results demonstrate that Tim-4 may be involved in the pathogenesis of SLE.
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PMID:Increased expression of human T-cell immunoglobulin- and mucin-domain-containing molecule-4 in peripheral blood mononuclear cells from patients with system lupus erythematosus. 2014 11

Mucin deposit is a feature that is not commonly mentioned in textbooks when talking about rosacea. Nevertheless, it is one of the prominent findings of a severe variant of the phymatous type of rosacea known as the fibrous type. We retrospectively investigated 20 cases of early stages of rosacea and examined the mucin deposit in them, with histochemical stains (Alcian Blue and Periodic Acid-Schiff). We found granulomas in 20% of these cases. Alcian Blue positive deposits of mucin were found in all cases with granulomas. The mucin was located in the granulomas (four cases) as well as in the infundibulum (one case). No deposits of mucin were evidenced in the dermis out of the granulomas, apart from the normal mucin of papillary and adventicial dermis. Periodic Acid-Schiff did not show any deposits in any case. Serologic lupus markers were negative in all patients with mucin deposits. We conclude that: (a) mucin is a common finding in granulomas of rosacea; (b) this mucin is probably not related to any progression to the mucinous variant of rhinophyma; (c) since discoid erythematosus lupus is a clinical differential of rosacea, it is important to be aware of the fact that mucin is a common finding in the granulomas, in order not to misdiagnose both entities.
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PMID:Mucin is not a rare finding in rosacea. 2019 Nov 22

Palisaded and neutrophilic granulomatous dermatitis (PNGD) has been associated with many conditions including rheumatoid arthritis, systemic lupus erythematosus, systemic vasculitis, and other diseases with circulating immune complexes. Lymphoproliferative conditions, bacterial endocarditis, and various drugs can also induce this condition. Many patients also have symmetric polyarthritis with various serological abnormalities. We present a case of a 46-year-old female who presented with painful erythematous annular plaques and nodules on her legs. The lesions started a week prior to visit and increased in number over the course of the week. The patient had an established history of sarcoidosis with past episodes of uveitis and erythema nodosum. The histopathological findings included a diffuse pandermal infiltrate mostly composed of neutrophils, nuclear debris, and strands of deeply eosinophilic degenerated collagen. Vasculitis was not present. No significant increase in dermal mucin was detected. Based on the clinical and pathological findings, the patient was diagnosed with late-stage PNGD. To our knowledge, this is the first case of PNGD described in an adult patient of sarcoidosis.
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PMID:Palisaded neutrophilic and granulomatous dermatitis in association with sarcoidosis. 2052 67

Twenty-one Caucasian patients (12 women and 9 men) were diagnosed as having lupus erythematosus tumidus by clinical and histopathological criteria. They were analysed by blood tests, histopathology and immunological studies and their response to treatment was recorded. While blood tests yielded non contributory results, histopathology showed in all cases a superficial and deep lymphocytic infiltrate with a perivascular and periadnexal involvement and an interstitial dermal deposition of mucin. Minimal epidermal changes were observed in 13 cases. In particular, epidermal atrophy was found in 8 specimens, hyperkeratosis in 8, parakeratosis in 2, acanthosis in 3 and spongiosis in 1. Four patients showed a slight vacuolar degeneration and periodic acid-Schiff staining showed a thickened basal membrane zone in two. Direct immunofluorescence was positive in 16 of the 19 patients tested. Antinuclear antibodies were negative in all 21 patients in indirect immunofluorescence. Antimalarials cleared the lesions within 12 weeks in 16 patients. Fourteen of them relapsed about 3 weeks after the first sun exposure, but were successfully controlled with the same treatment within a maximum of 12 weeks. Spontaneous resolution of the skin lesions was never observed. Altogether, some evidence of heterogeneity is suggested, some cases strictly satisfying Kuhn et al's criteria, others resembling discoid lupus more closely.
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PMID:Lupus erythematosus tumidus: clinical, histopathological and serological aspects and therapy response of 21 patients. 2103 Mar 40

Acral persistent papular mucinosis is a rare subtype of localized lichen myxedematosus. It shows symmetric, asymptomatic, chronic, ivory to flesh-colored, 2-5 mm sized papules arranged on the dorsa of the hands and extensor aspects of the distal forearms. Thirty-two cases including two from China, appear to fit the proposed diagnostic criteria. We report a 31-year-old Chinese woman who presented with papules on the extensor aspects of her hands and distal forearms. Histopathology revealed a circumscribed area in the upper and mid reticular dermis with splaying of collagen fibers caused by amorphous deposits. The material was mucin, as it stained positively with alcian blue at pH 2.5. The thyroid profile was normal, and there was no evidence for lupus erythematous. The lesions were treated with electrofulguration and resolved leaving mild scars; there has been no recurrence at follow-up after one year. We also review the literature on this rare form of mucinosis.
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PMID:Acral persistent papular mucinosis: a case report and literature review. 2112 68

Systemic lupus erythematosus (SLE) is a prototypic systemic autoimmune diseases, which affects multiple organ systems such as kidney. The imbalance of T-helper 1 (Th1)/Th2 cells is critical in the pathogenesis of SLE. The T-cell immunoglobulin mucin (TIM) proteins comprise a family of cell surface molecules expressed on T cells that regulate Th1- and Th2-cell-mediated immunity. Recent work has found increased expression of TIM-1 and TIM-3 ligand (galactin-9) mRNA in SLE patients and implied that TIM proteins might be involved in the pathogenesis of SLE. In this study, genotyping of single-nucleotide polymorphisms (SNPs) was performed for TIM-1 (rs1501909 and rs12522248) and TIM-3 (rs9313439 and rs10515746) in 202 SLE patients and 217 healthy individuals in a Chinese population. Results showed no significant differences existed between the patients with SLE and the controls as well as SLE patients with nephritis and those without nephritis, in all four SNPs. The findings suggest that the polymorphisms of TIM gene family might not contribute to SLE susceptibility in the Chinese population. However, it should be noted that the statistical power of our study is relatively low, which likely did not have adequate power to detect the actual correlation between the selected SNPs and SLE susceptibility; moreover, we cannot discard a possible association of other variants within the region covering TIM with SLE as a genetic risk factor, with larger samples in different populations.
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PMID:Polymorphisms of the TIM-1 and TIM-3 genes are not associated with systemic lupus erythematosus in a Chinese population. 2136 14

Linear chronic discoid lupus erythematosus is a rare manifestation of cutaneous lupus in which erythematous, atrophic, dyschromic lesions are located along the lines of Blaschko. This report describes the case of a 15-year old boy with a 2-year history of discoid, erythematous, hyper and hypopigmented lesions with central atrophy, situated along the lines of Blaschko on his right arm. Histopathology showed epidermal atrophy, hyperkeratosis, follicular plugging, thickening of the basement membrane zone, and superficial and deep chronic perivascular and periadnexal inflammatory infiltrate, with dermal mucin deposit, thus confirming diagnosis. A total of 14 cases have been described of this variant, the onset of which is often in childhood. There is no difference in incidence between genders. Lesions most commonly develop on the face. There have been no reports of any association with systemic disease.
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PMID:Linear chronic discoid lupus erythematosus following the lines of Blaschko. 2173 75

A 32-year-old Taiwanese man presented to our clinic with a 6-month history of linear hair loss in a wavy and curved pattern across the parietal and occipital scalp, resembling the distribution of Blaschko's lines. Physical examination showed interfollicular erythema and follicular plugging without skin atrophy or sclerotic change. Histopathology revealed a lymphoplasmacytic infiltrate in the perifollicular dermis and subcutis with abundant mucin deposition, consistent with the diagnosis of lupus panniculitis. Treatment with hydroxychloroquine and local steroid injection resulted in complete hair regrowth but recurrence was noted. Linear lupus panniculitis of the scalp presenting as alopecia along Blaschko's lines had so far been reported exclusively in five East Asians. Apart from classical lupus panniculitis, it had distinct clinical and histopathological features such as younger age of onset, male predominance, reversible clinical course without scarring, fewer associations with systemic lupus erythematosus, exclusive involvement of scalp, sparse inflammatory infiltration, abundant mucin deposition, higher degree of hyaline fat degeneration and negative results of immunofluorescent studies. Therefore, we propose linear lupus panniculitis of the scalp to be a distinct variant of lupus panniculitis and should be included in the differential diagnosis for focal or linear alopecia, especially in East Asians.
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PMID:Linear lupus panniculitis of the scalp presenting as alopecia along Blaschko's lines: a distinct variant of lupus panniculitis in East Asians? 2325 54


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