-
Journal of Endocrinological... Mar 2022The Primavera is considered amongst the greatest and controversial artistic masterpieces worldwide painted by renaissance artist Sandro Botticelli. The aim was to...
PURPOSE
The Primavera is considered amongst the greatest and controversial artistic masterpieces worldwide painted by renaissance artist Sandro Botticelli. The aim was to identify any underlying medical foundations for the painting.
METHODS
Observational study.
RESULTS
The painting reveals, a 'butterfly' malar rash, bilateral ptosis and a clear neck swelling consistent with a goitre in the figure of Flora. This could be explained by concomitant Graves' disease and systemic lupus erythematosus, or other presentations of multiple autoimmune syndrome.
CONCLUSION
These findings highlight the likely presentation of the earliest pictorial depictions of thyroid disease with systemic lupus erythematosus and emphasize the exactitude of depiction demonstrated by Botticelli in renaissance era.
Topics: Autoimmunity; Blepharoptosis; Diagnosis, Differential; Exanthema; Flushing; Hashimoto Disease; History, 15th Century; Humans; Italy; Lupus Erythematosus, Systemic; Medicine in the Arts; Paintings; Thyroid Neoplasms
PubMed: 34241830
DOI: 10.1007/s40618-021-01623-3 -
Journal of Postgraduate Medicine 2020
Topics: Anti-Bacterial Agents; Anti-Inflammatory Agents; Child; Conjunctiva; Doxycycline; Female; Humans; Sunlight; Surgical Wound; Tooth; Tooth Discoloration; Wound Healing
PubMed: 31929314
DOI: 10.4103/jpgm.JPGM_454_19 -
Cureus Dec 2023Taxanes, in combination with platinum-based drugs, are considered the initial treatment option for certain types of cancer, including ovarian cancer. Here, we report the...
Taxanes, in combination with platinum-based drugs, are considered the initial treatment option for certain types of cancer, including ovarian cancer. Here, we report the case of a 59-year-old woman who developed a malar rash on her face, a maculopapular rash on her forearms, and bluish discoloration on her fingers immediately following the end of the third cycle of chemotherapy. After discontinuing paclitaxel and using oral and topical steroids for rash and diltiazem and topical minoxidil for the treatment of Raynaud's phenomenon, the symptoms completely resolved. While taxanes are known to cause drug-induced lupus, there has never been any information on taxanes causing isolated Raynaud's phenomenon. This is the first case report that suggests paclitaxel-induced Raynaud's phenomenon along with paclitaxel-induced lupus.
PubMed: 38259408
DOI: 10.7759/cureus.50974 -
Lupus Science & Medicine 2015Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterised by heterogeneous clinical manifestations, autoantibody production and epigenetic...
OBJECTIVE
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterised by heterogeneous clinical manifestations, autoantibody production and epigenetic dysregulation in T cells. We sought to investigate the epigenetic contribution to the development of cutaneous manifestations in SLE.
METHODS
We performed genome-wide DNA methylation analyses in patients with SLE stratified by a history of malar rash, discoid rash or neither cutaneous manifestation, and age, sex and ethnicity matched healthy controls. We characterised differentially methylated regions (DMRs) in naïve CD4+ T cells unique to each disease subset, and assessed functional relationships between DMRs using bioinformatic approaches.
RESULTS
We identified 36 and 37 unique DMRs that contribute to the epigenetic susceptibility to malar rash and discoid rash, respectively. These DMRs were primarily localised to genes mediating cell proliferation and apoptosis. Hypomethylation of MIR886 and TRIM69, and hypermethylation of RNF39 were specific to patients with SLE with a history of malar rash. Hypomethylation of the cytoskeleton-related gene RHOJ was specific to patients with SLE with a history of discoid rash. In addition, discoid rash-specific hypomethylated DMRs were found in genes involved in antigen-processing and presentation such as TAP1 and PSMB8. Network analyses showed that DMRs in patients with SLE with but not without a history of cutaneous manifestations are associated with TAP-dependent processing and major histocompatibility-class I antigen cross-presentation (p=3.66×10(-18) in malar rash, and 3.67×10(-13) in discoid rash).
CONCLUSIONS
We characterised DNA methylation changes in naïve CD4+ T cells specific to malar rash and discoid rash in patients with SLE. These data suggest unique epigenetic susceptibility loci that predispose to or are associated with the development of cutaneous manifestations in SLE.
PubMed: 26405558
DOI: 10.1136/lupus-2015-000101 -
Open Access Rheumatology : Research and... 2020We report a case of 30-year-old female who presented initially with hair loss, photosensitive malar rash, morning stiffness and synovitis. She was diagnosed with Rhupus...
We report a case of 30-year-old female who presented initially with hair loss, photosensitive malar rash, morning stiffness and synovitis. She was diagnosed with Rhupus syndrome based on clinical and laboratory findings. Few months after starting hydroxychloroquine, esomeprazole and azathioprine, and failing methotrexate (because of erosive pill-induced esophagitis), she presented with generalized maculopapular dusky reddish rash in her body, back and extremities. Her anti-double stranded-DNA, anti-nuclear antibody, anti-Ro/SSA and anti-La/SSB were positive. Anti-cyclic citrullinated peptide antibody was moderately positive. She had low complements: C3 and C4. Herpes simplex IgM and mycoplasma tested negative. Skin biopsy from right arm showed evidence of erythema multiform. She met the criteria for the diagnosis of Rowell syndrome. We managed her with hydroxychloroquine, prednisolone, mycophenolate mofetil and topical agents and discontinued esomeprazole. We also review the management of Rowell syndrome in the literature.
PubMed: 32607016
DOI: 10.2147/OARRR.S255790 -
Arthritis Care & Research Jul 2023Ultraviolet (UV) radiation exposure is associated with photosensitivity, rashes, and flares in systemic lupus erythematosus (SLE). However, it is not known whether UV...
OBJECTIVE
Ultraviolet (UV) radiation exposure is associated with photosensitivity, rashes, and flares in systemic lupus erythematosus (SLE). However, it is not known whether UV exposure increases risk of developing SLE. We examined UV exposure and SLE risk in a large prospective cohort.
METHODS
The Nurses' Health Study (NHS) enrolled 121,700 US female nurses in 1976; in 1989, 116,429 nurses were enrolled in NHS II. Biennial questionnaires collected lifestyle and medical data. Self-reported incident SLE by American College of Rheumatology classification criteria was confirmed by medical record review. Ambient UV exposure was estimated by linking geocoded residential addresses with a spatiotemporal UV exposure model. Cox models estimated hazard ratios (HRs) and 95% confidence intervals (95% CIs) across tertiles of time-varying cumulative average UV. We examined SLE risk overall and stratified by anti-Ro/La antibodies and by cutaneous manifestations from 1976 through 2014 (NHS)/2015 (NHS II), adjusting for confounders.
RESULTS
With 6,054,665 person-years of exposure, we identified 297 incident SLE cases; the mean ± SD age at diagnosis was 49.8 ± 10.6 years. At diagnosis, 16.8% of women had +anti-Ro/La, and 80% had either +anti-Ro/La or ≥1 cutaneous manifestation. Compared with the lowest UV exposure tertile, risk of overall SLE was increased, but not significantly (HR 1.28 [95%CI 0.96-1.70]). Women in the highest tertile had increased risk of malar rash (HR 1.62 [95% CI 1.04-2.52]).
CONCLUSION
Cumulative UV exposure was not associated with SLE risk. Higher UV exposure, however, was associated with increased risk of malar rash at presentation. UV exposure may trigger SLE onset with malar rash among susceptible women.
Topics: Female; Humans; Adult; Middle Aged; Risk Factors; Prospective Studies; Lupus Erythematosus, Systemic; Nurses
PubMed: 35724272
DOI: 10.1002/acr.24974 -
Seminars in Arthritis and Rheumatism Dec 2022Juvenile Dermatomyositis (JDM), a severe and rare autoimmune disease, is the most common idiopathic inflammatory myopathy in children. We describe the clinical features...
INTRODUCTION
Juvenile Dermatomyositis (JDM), a severe and rare autoimmune disease, is the most common idiopathic inflammatory myopathy in children. We describe the clinical features of a large single-centre cohort.
METHODS
We studied an inception cohort (0-18 years old) referred for diagnosis to the JDM clinic at The Hospital for Sick Children (SickKids), between January 1989 and September 2017. Probable or definite diagnosis of JDM was done according to the 2017 ACR/EULAR Criteria. We excluded children who had treatment started at another hospital. The data were collected retrospectively from clinical charts and the SickKids JDM database.
RESULTS
172/230 (74.8%) patients were included. They were most often female (female:male = 1.8:1); the age at diagnosis was 8.5±4.3 years. There was a positive family history for autoimmune disease in 52%, mainly rheumatoid arthritis. No patient died. The most common signs at inception were muscle weakness (85.5%), nailfold capillary abnormalities (83.4%), Gottron papules (78.5%), heliotrope rash (66.3%), abnormal gait (55.8%), and malar/facial rash (54.7%). The prevalence of Gottron papules, heliotrope rash, facial/malar rash, nailfold capillary abnormalities, Raynaud phenomenon, dysphonia/dysphagia (a frequent cause of hospitalization), mouth ulcers, calcinosis, eye problems, joint involvement, acanthosis nigricans and lipodystrophy increased during follow-up. Muscle enzymes, namely CK, ALT, AST, were often normal or only slightly raised despite active muscle disease; conversely LD was often high. Anti-Nuclear Autoantibodies were positive in 49.7% of patients at diagnosis. The course of the disease was: 29.1% monocyclic, 5.3% polycyclic, 33.1% chronic. The course of 56 patients (32.5%) was not classifiable due to length of follow-up. Corticosteroids were used as treatment in almost all our patients and 30% required intravenous therapy due to the severity of the presentation; methotrexate was added in 64%, more often in recent years. Unresponsive patients were treated mostly with intravenous immunoglobulins (IVIG).
CONCLUSIONS
The information obtained from this relatively large number of patients adds to the growing knowledge base of this rare disease.
TRIAL REGISTRATION
SickKids Research Ethics Board approved the study.
Topics: Humans; Male; Female; Child, Preschool; Child; Infant, Newborn; Infant; Adolescent; Dermatomyositis; Retrospective Studies; Myositis; Autoimmune Diseases; Exanthema
PubMed: 36183479
DOI: 10.1016/j.semarthrit.2022.152104 -
BMJ Case Reports Jul 2017
Topics: Aged; Anti-Arrhythmia Agents; Anti-Bacterial Agents; Cheek; Diagnosis, Differential; Digoxin; Diuretics; Exanthema; Female; Humans; Hypertension, Pulmonary; Nose; Oxygen; Pulmonary Disease, Chronic Obstructive
PubMed: 28705848
DOI: 10.1136/bcr-2017-220589 -
Seminars in Arthritis and Rheumatism Jun 2016Although systemic lupus erythematosus (SLE) most commonly occurs in reproductive-age women, some are diagnosed after the age of 50. Recognizing that greater than... (Comparative Study)
Comparative Study Meta-Analysis Review
OBJECTIVES
Although systemic lupus erythematosus (SLE) most commonly occurs in reproductive-age women, some are diagnosed after the age of 50. Recognizing that greater than one-third of SLE criteria are cutaneous, we undertook a systematic review and meta-analysis to evaluate differences in cutaneous manifestations in early- and late-onset SLE patients.
METHODS
We searched the literature using PubMed, CINAHL, Web of Science, and Cochrane Library. We excluded studies that did not include ACR SLE classification criteria, early-onset controls, that defined late-onset SLE as <50 years of age, or were not written in English. Two authors rated study quality using the Newcastle Ottawa Quality Scale. We used Forest plots to compare odds ratios (95% CI) of cutaneous manifestations by age. Study heterogeneity was assessed using I(2).
RESULTS
Overall, 35 studies, representing 11,189 early-onset and 1727 late-onset patients with SLE, met eligibility criteria. The female:male ratio was lower in the late-onset group (5:1 versus 8:1). Most cutaneous manifestations were less prevalent in the late-onset group. In particular, malar rash [OR = 0.43 (0.35, 0.52)], photosensitivity [OR = 0.72 (0.59, 0.88)], and livedo reticularis [OR = 0.33 (0.17, 0.64)] were less common in late-onset patients. In contrast, sicca symptoms were more common [OR = 2.45 (1.91, 3.14)]. The mean Newcastle Ottawa Quality Scale score was 6.3 ± 0.5 (scale: 0-9) with high inter-rater reliability for the score (0.96).
CONCLUSIONS
Overall, cutaneous manifestations are less common in late-onset SLE patients, except sicca symptoms. Future studies should investigate etiologies for this phenomenon including roles of immune senescence, environment, gender, and immunogenetics.
Topics: Age of Onset; Alopecia; Exanthema; Female; Humans; Late Onset Disorders; Livedo Reticularis; Lupus Erythematosus, Systemic; Male; Middle Aged; Odds Ratio; Photosensitivity Disorders; Raynaud Disease; Skin Diseases; Vasculitis
PubMed: 26972993
DOI: 10.1016/j.semarthrit.2016.01.004 -
Heliyon Nov 2022Systemic lupus erythematosus (SLE) is a chronic, inflammatory, multiorgan, systemic autoimmune disease. It is characterized by the high production of autoantibodies...
INTRODUCTION
Systemic lupus erythematosus (SLE) is a chronic, inflammatory, multiorgan, systemic autoimmune disease. It is characterized by the high production of autoantibodies against nuclear compounds. TLRs (toll-like receptors 7/9) are pattern-recognition receptors that recognize nucleic acids and induce proinflammatory responses by activating NF-kB and producing type I interferon, which play a role in eliciting innate/adaptive immune responses and developing chronic inflammation. TLR7 and TLR9 single nucleotide polymorphisms (SNPs) have been linked to systemic lupus erythematosus in numerous studies (SLE). In this work, we wanted to evaluate and analyze single nucleotide polymorphisms (SNPs) in the TLR7 (rs3853839) and TLR9 (rs187084) genes among Egyptian SLE patients and healthy controls.
METHOD
Whole blood samples were taken from 100 SLE patients and 100 controls; DNA was extracted and then processed for TLR7 rs3853839 and TLR9 rs187084 single nucleotide polymorphisms analysis by real-time polymerase chain reaction technology and restriction fragment-length polymorphism. We also assessed the association between TLR 7 and TLR 9 genes polymorphism with SLE clinical parameters.
RESULTS
Our results showed that TLR7 rs3853839 CG genotypes and G allele were significantly associated with SLE. Also, TLR7 rs3853839 genotypes and alleles were significantly associated with nephritis, arthritis, oral ulcers, and thrombocytopenia.Whereas genotypes and alleles of TLR9 were not significantly associated with the risk nor the clinical characteristics of SLE except for malar rash.
CONCLUSION
In the investigated Egyptian cohort, our findings suggest that TLR7 rs3853839 gene polymorphisms increase the risk for SLE development and play a role in developing clinical characteristics, especially nephritis.
PubMed: 36439744
DOI: 10.1016/j.heliyon.2022.e11680