-
Immunity, Inflammation and Disease Jun 2024To investigate the prognostic factors of patients with anti-melanoma differentiation-associated gene 5 (MDA5) positive clinically amyopathic dermatomyositis (CADM) and...
OBJECTIVE
To investigate the prognostic factors of patients with anti-melanoma differentiation-associated gene 5 (MDA5) positive clinically amyopathic dermatomyositis (CADM) and interstitial lung disease (ILD).
METHODS
A retrospective analysis was conducted on clinical data of 125 patients with anti-MDA5 + CADM-ILD collected from 10 branches in eastern China between December 2014 and December 2022. Prognostic factors were analyzed using χ test, Log-rank test, COX and logistic regression analysis.
RESULTS
In this cohort, 125 anti-MDA5 + CADM-ILD patients exhibited a rapidly progressive interstitial lung disease (RPILD) incidence of 37.6%, and an overall mortality rate of 24.8%. One patient was lost to follow-up. After diagnosis of RPILD, a mortality rate of 53.2% occurred in patients died within 3 months, and that of 5.6% appeared in those who survived for more than 3 months. Multiple factor analysis revealed that C-reactive protein (CRP) ≥ 10 mg/L (p = 0.01) and recombinant human tripartite motif containing 21 (Ro52) (+) (p = 0.003) were associated with a higher risk of RPILD in anti-MDA5 + CADM-ILD patients; CRP ≥ 10 mg/L (p = 0.018) and the presence of RPILD (p = 0.003) were identified as the factors influencing survival time in these patients, while arthritis was the protective factor (p = 0.016).
CONCLUSION
Patients with anti-MDA5 + CADM-ILD will have a higher mortality rate, and the initial 3 months after diagnosis of RPILD is considered the risk window for the dismal prognosis. Patients with CRP ≥ 10 mg/L, Ro52 (+) and RPILD may be related to a shorter survival time, while patients complicated with arthritis may present with relatively mild conditions.
Topics: Humans; Lung Diseases, Interstitial; Dermatomyositis; Interferon-Induced Helicase, IFIH1; Male; Female; Prognosis; Middle Aged; Retrospective Studies; Adult; Autoantibodies; China; Aged
PubMed: 38934403
DOI: 10.1002/iid3.1332 -
International Journal of Rheumatic... Jun 2024
Topics: Humans; Dermatomyositis; Calcinosis; Treatment Outcome; Female; Child; Male; Immunoglobulins; Injections, Subcutaneous
PubMed: 38923294
DOI: 10.1111/1756-185X.15239 -
Journal of Clinical Immunology Jun 2024Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation...
PURPOSE
Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation causing MSN deficiency and a novel phenotype.
METHODS
Clinical and immunological data were collected. Whole-exome sequencing was performed to identify gene mutations. MSN protein expression and T cell proliferation and activation were determined by flow cytometry. Cell migration was confirmed with a Transwell assay. Autoantibody levels were analyzed using antigen microarrays.
RESULTS
The patient was a 10-year-old boy who presented with recurrent fever, oral ulcers and dermatomyositis-like symptoms, such as periorbital edema, facial swelling, elevated creatine kinase levels, and abnormal electromyography and muscle biopsy results. Epstein-Barr virus (EBV) DNA was detected in the serum, cells and tissues of this patient. He further developed nasal-type NK/T-cell lymphoma. A novel hemizygous mutation (c.68 A > G, p.N23S) in the MSN gene was found. The immunological phenotype of this patient included persistent decreases in T and B lymphocyte counts but normal immunoglobulin IgG levels. The patient had attenuated MSN protein expression and impaired T-cell proliferation and migration. The proportions of Tfh cells and CD21 B cells in the patient were higher than those in the controls. Moreover, 82 IgG and 102 IgM autoantibodies were more abundant in the patient than in the healthy controls.
CONCLUSIONS
The novel mutation N23S is pathogenic and leads to a severe clinical phenotype. EBV infection, tumor, and dermatomyositis-like autoimmune symptoms may be associated with MSN deficiency, further expanding the understanding of the disease.
Topics: Humans; Male; Epstein-Barr Virus Infections; Dermatomyositis; Child; Microfilament Proteins; Mutation; Herpesvirus 4, Human; Exome Sequencing; Immunologic Deficiency Syndromes; Autoantibodies; Phenotype; T-Lymphocytes
PubMed: 38922539
DOI: 10.1007/s10875-024-01755-0 -
Briefings in Bioinformatics May 2024
Topics: Dermatomyositis; Humans; Interferon-Induced Helicase, IFIH1; Machine Learning; Autoantibodies; Phenotype
PubMed: 38920344
DOI: 10.1093/bib/bbae303 -
Cureus May 2024Idiopathic inflammatory myopathy (IIM) represents a rare group of autoimmune conditions resulting in muscle weakness and includes polymyositis, dermatomyositis,...
Idiopathic inflammatory myopathy (IIM) represents a rare group of autoimmune conditions resulting in muscle weakness and includes polymyositis, dermatomyositis, immune-mediated necrotizing myopathy (IMNM), overlap myositis, and inclusion body myositis. Anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibody IMNM represents a rare but increasingly recognized subtype of IIM. Here we report a case of a 65-year-old woman on rosuvastatin who presented with two months of progressive proximal muscle weakness, significant truncal weakness, and elevated creatine kinase concerning for rhabdomyolysis and inflammatory myopathy. The patient was eventually diagnosed on day 8 of her hospital stay with anti-HMGCR antibody IMNM after delayed testing for this specific myopathy. Increased awareness of this IIM subtype, as well as its risk factors and presenting features, might improve rapidity of testing and shorten hospital stays if the diagnosis is considered in the emergency department or early in the hospital course.
PubMed: 38919212
DOI: 10.7759/cureus.61094 -
Acta Dermatovenerologica Alpina,... Jun 2024Dermatomyositis (DM) is a group of autoimmune idiopathic inflammatory myopathies characterized by typical cutaneous signs and symptoms of muscle involvement. The...
INTRODUCTION
Dermatomyositis (DM) is a group of autoimmune idiopathic inflammatory myopathies characterized by typical cutaneous signs and symptoms of muscle involvement. The diseases can be associated with cancer in the paraneoplastic syndrome, calcinosis, interstitial lung disease, other autoimmune connective tissue diseases (in overlap syndrome), and Raynaud's phenomenon.
METHODS
Clinical and capillaroscopic data were gathered from 43 patients with DM. The diagnosis was based on the Bohan‒Peter and European League against Rheumatism / American College of Rheumatology (EULAR/ACR) classification criteria. In addition, nailfold capillaroscopy was performed in all patients.
RESULTS
In our cohort, eight patients had overlap syndrome, six had paraneoplastic syndrome, eight presented with interstitial lung disease, and nine had calcinosis, two of whom also had a cancerous pathology. Raynaud's phenomenon was reported in 74% of patients. Upon nailfold capillaroscopy, 84% of patients presented giant capillaries, 81% ramified capillaries, and 70% both. The latter, notably giant ramified capillaries, could be considered specific for DM. The detection of prominent subpapillary venous plexuses was associated with pulmonary involvement. In contrast, alterations of the pericapillary spaces were associated with the severity and prognosis of DM.
CONCLUSIONS
Our results underline the usefulness of nailfold capillaroscopy in the diagnosis and prognosis of DM. Based on the results and literature data, specific nailfold capillaroscopy features should be included in DM diagnostic criteria.
Topics: Humans; Microscopic Angioscopy; Dermatomyositis; Female; Male; Middle Aged; Aged; Adult
PubMed: 38918941
DOI: No ID Found -
Journal of Pathology and Translational... Jun 2024The identification of idiopathic inflammatory myopathies (IIMs) requires a comprehensive analysis involving clinical manifestations and histological findings. This study...
BACKGROUND
The identification of idiopathic inflammatory myopathies (IIMs) requires a comprehensive analysis involving clinical manifestations and histological findings. This study aims to provide insights into the histopathological and immunohistochemical aspects of IIMs.
METHODS
This retrospective case series involved 56 patients diagnosed with IIMs at the Department of Pathology, University of Medicine and Pharmacy at Ho Chi Minh City, from 2019 to 2023. The histology and immunohistochemical expression of HLA-ABC, HLA-DR, C5b-9, Mx1/2/3, and p62 were detected.
RESULTS
We examined six categories of inflammatory myopathy, including immunemediated necrotizing myopathy (58.9%), dermatomyositis (DM; 23.2%), overlap myositis (8.9%), antisynthetase syndrome (5.4%), inclusion body myositis (IBM; 1.8%), and polymyositis (1.8%). The average age of the patients was 49.7 ± 16.1 years, with a female-to-male ratio of 3:1. Inflammatory cell infiltration in the endomysium was present in 62.5% of cases, perifascicular atrophy was found in 17.8%, and fiber necrosis was observed in 42 cases (75.0%). Rimmed vacuoles were present in 100% of cases in the IBM group. Immunohistochemistry showed the following positivity rates: HLA-ABC (89.2%), HLA-DR (19.6%), C5b-9 (57.1%), and Mx1/2/3 (10.7%). Mx1/2/3 expression was high in DM cases. p62 vacuole deposits were noted in the IBM case. The combination of membrane attack complex and major histocompatibility complex I helped detect IIMs in 96% of cases.
CONCLUSIONS
The diagnosis of IIMs and their subtypes should be based on clinical features and histopathological characteristics. Immunohistochemistry plays a crucial role in the diagnosis and differentiation of these subgroups.
PubMed: 38910358
DOI: 10.4132/jptm.2024.05.02 -
BMJ Case Reports Jun 2024Anti-melanoma differentiation-associated gene 5-positive (Anti-MDA5) dermatomyositis (DM) is an aggressive phenotype of DM associated with rapidly progressive...
Anti-melanoma differentiation-associated gene 5-positive (Anti-MDA5) dermatomyositis (DM) is an aggressive phenotype of DM associated with rapidly progressive interstitial lung disease (RP-ILD). It is a rare condition that carries high mortality. Diagnosis and management of patients with anti-MDA5 DM RP-ILD presents several challenges, including uncertainty around treatment algorithms and a lack of evidence to inform practice. This case report of a patient with anti-MDA5 DM RP-ILD highlights these challenges, emphasising the fulminant course of this disease despite aggressive immunosuppression. Further research is required to guide management and to minimise morbidity and mortality, and greater awareness of the condition is required to minimise delays in diagnosis.
Topics: Humans; Dermatomyositis; Interferon-Induced Helicase, IFIH1; Lung Diseases, Interstitial; Autoantibodies; Early Diagnosis; Fatal Outcome; Male; Female; Middle Aged
PubMed: 38908836
DOI: 10.1136/bcr-2023-259338 -
Journal of Investigative Medicine High... 2024Dermatomyositis (DM) presents with inflammatory myopathy and distinct skin manifestations, often linked to specific autoantibodies. Anti-transcriptional intermediary...
Dermatomyositis (DM) presents with inflammatory myopathy and distinct skin manifestations, often linked to specific autoantibodies. Anti-transcriptional intermediary factor-1 gamma (TIF-1γ) antibodies (Abs) are typically linked to DM in older patients and malignancy in 15% to 40% of cases. We highlight a case of a 24-year-old female who presented with weakness of proximal muscles, periorbital edema, heliotrope rash, erosions on oral mucosa, and painful scaly rash on the lower extremities. Transcriptional intermediary factor-1 gamma Abs were positive, confirming inflammatory myopathy. Treatment with steroid pulse therapy and immunoglobulin led to improvement. Evaluation for malignancy yielded unremarkable results. This case underscores the importance of recognizing and managing DM with TIF-1γ Ab positive, even in atypical demographics, and highlights the need for comprehensive malignancy evaluation.
Topics: Humans; Female; Dermatomyositis; Autoantibodies; Young Adult; Transcription Factors
PubMed: 38904327
DOI: 10.1177/23247096241263065 -
Frontiers in Immunology 2024A diagnosis of dermatomyositis requires recognition of distinct patterns of skin disease in combination with, and sometimes without, muscle weakness. Often, a striking...
A diagnosis of dermatomyositis requires recognition of distinct patterns of skin disease in combination with, and sometimes without, muscle weakness. Often, a striking contrast between involved and uninvolved areas is observed. Familiar patterns include eyelid and midfacial eruptions, Gottron papules/sign, and upper back (shawl sign), central chest (V/open collar sign), and lateral thigh (holster sign) involvement. More recently, new specific antibody/phenotype-associated patterns have been reported. We describe a case series of two distinct patterns of skin involvement in six adult patients with both classical and amyopathic dermatomyositis. Three had paraneoplastic disease. All had intermediate to richly pigmented skin; five were of Afro-Caribbean and one was of Asian-Caribbean descent. Four were men, and two were women. Ages ranged from 41 to 89 years. All patients had concomitant hallmark signs (facial, hand, and/or trunk signs). Three were amyopathic. The first pattern involved a sharply demarcated, horizontally oriented hyperpigmented patch/thin plaque across the shoulders and upper chest, extending up the anterior neck. The second was the combination of the classical upper back shawl distribution with distinct mid-back sparing and diffuse involvement of the lower back. Named patterns help with the recognition of skin rashes in dermatomyositis. Based on the current lexicon describing items of apparel, we liken the first pattern to a "fur stole and turtleneck" sign and the latter to a "halter-back" or "reflected-shawl" sign. Biopsies revealed hyperkeratosis and interface dermatitis, often with epidermal atrophy, compatible with dermatomyositis. These patterns perhaps represent the coalescence of already well-described signs, photo-exacerbation, koebnerization, mechanical stretch, and other currently unclear factors contributing to patterning in dermatomyositis. Pattern distribution recognition is particularly valuable in individuals with richly pigmented skin who may lack typical violaceous erythema. The distinct demarcation led to the initial misdiagnosis of allergic contact dermatitis or other exogenous dermatitis in most of our patients. Further work involves evaluation of antibody phenotype and internal involvement associations. Limitations include lack of specific antibody panels and longitudinal follow-up data.
Topics: Humans; Dermatomyositis; Male; Female; Adult; Middle Aged; Aged; Aged, 80 and over; Skin; Autoantibodies
PubMed: 38903505
DOI: 10.3389/fimmu.2024.1400575