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UNASSIGNED: Anti-melanoma differentiation-associated gene 5-positive (anti-MDA5) dermatomyositis (DM) is a rare autoimmune disease associated with rapidly-progressive interstitial lung disease (RP-ILD.) The reported morbidity and 6-month mortality remains high from 33 to 66 % with RP-ILD most often developing within three months of diagnosis. Most cases require aggressive immunosuppression with combination therapy. Asymptomatic or slowly progressive cases of anti-MDA5 ILD are not well described in the literature. We report three cases of Latino patients with asymptomatic or slowly progressive anti-MDA5 ILD.Case descriptions.
UNASSIGNED: A 54-year-old woman from Honduras with known diagnosis of anti-MDA5 dermatomyositis presented for ILD. She denied respiratory symptoms. Computed tomography (CT) chest showed multifocal patchy areas of scattered groundglass opacities throughout all lobes of the lungs, predominately in a subpleural distribution within the lower lobes. Pulmonary function testing (PFTs) showed mild-to-moderate restriction. She was treated with mycophenolate mofetil monotherapy for her skin manifestations. At 18 months follow-up, she denied respiratory symptoms, and PFTs were normal.
UNASSIGNED: An 80-year-old man from Cuba was seen in pulmonary clinic to establish care. He was diagnosed with pulmonary fibrosis 11 years earlier with positive anti-MDA5. He denied respiratory symptoms. PFTs showed moderate obstruction and mild to moderate restriction. CT chest showed reduced lung volumes and findings compatible with usual interstitial pneumonia. He was started on nintedanib. Fifteen months following the initial visit, his PFTs remained stable. Follow-up CT chest showed stable pulmonary fibrosis. At all subsequent visits, he reported mild to moderate, slowly progressive dyspnea on exertion and was maintained on nintedanib. Thirteen years after his initial ILD diagnosis, he was diagnosed with pancreatic adenocarcinoma.
UNASSIGNED: A 70-year-old woman from Peru presented to pulmonary clinic with cough for two months. She also reported pain in several metacarpophalangeal joints. She denied dyspnea. Rheumatologic serologies revealed positive anti-MDA5. PFTs were normal. Her cough was treated with cough suppressants and resolved. At a subsequent visit 8 months after presentation, she denied respiratory symptoms, and her joint pain remained mild. Given her lack of respiratory symptoms and normal PFTs, she was not initiated on ILD-specific treatment.
UNASSIGNED: While anti-MDA5 ILD is certainly associated with RP-ILD, clinicians should maintain awareness that there may be cases of asymptomatic or slowly progressive ILD as well.

OBJECTIVE: To investigate the potential risk factors for mortality in fungal infection in anti-melanoma differentiation-associated gene 5 antibody-positive associated interstitial lung disease (MDA5-ILD).
METHODS: Patients diagnosed with MDA5-ILD from April 2017 to November 2022 were included. The demographic data, laboratory examinations, therapeutic and follow-up information were recorded. Fungal infection diagnosis was established based on a combinations of host factors, clinical features and mycologic evidences. High-dose corticosteroid therapy was defined as the initial corticosteroid doses > 240mg/d. The primary endpoint was mortality. Potential factors for fungal infection occurrence and prognostic factors were analyzed using logistic regression analysis and Cox proportional hazards regression.
RESULTS: In total, 121 patients with MDA5-ILD were included. During follow-up, 41 (33.9%) patients had suffered fungal infection and 39.0% (16/41) of whom had ever received high-dose corticosteroid therapy. The median interval from corticosteroid use to the occurrence of fungal infection was 29 (10-48) days. The mean survival time of patients with fungal infection was 234.32 ± 464.76 days. The mortality in MDA5-ILD with fungal infection was 85.4% (35/41), which was significantly higher than those without (85.4% VS 56.3%, P < 0.001). High-dose corticosteroid therapy (P = 0.049) was independent risk factor for fungal infection occurrence. Decreased serum albumin level (P = 0.024) and high-dose corticosteroid therapy (P = 0.008) were both associated with increased mortality in MDA5-ILD patients with fungal infection.
CONCLUSIONS: Fungal infection is associated with an increased mortality in MDA5-ILD. The serum albumin level and corticosteroid dose should be taken into consideration when treating MDA5-ILD. Key Points • This study showed fungal infection is associated with an increased mortality in MDA5-ILD. In MDA5-ILD patients with fungal infection, the presence of decreased serum albumin level and high-dose corticosteroid therapy were identified as predictors for mortality.

This report presents the case of an 11-year-old girl with juvenile dermatomyositis (JDM), anti-MDA5 antibodies and multiple skin ulcers. Treatment with traditional immunomodulators and tofacitinib resulted in healing of the skin ulcers and normalization of muscle enzyme markers. This case highlights the significance of recognizing the association between anti-MDA5 antibodies and cutaneous ulceration in JDM and supports the use of Janus kinase inhibitors as a management option.

Clinically amyopathic dermatomyositis (CADM) is a rare form of dermatomyositis. Patients with this condition present with the typical skin findings of dermatomyositis but lack the characteristic muscle weakness associated with dermatomyositis. This case presentation highlights the unusual clinical manifestation of CADM in a 49-year-old Vietnamese female. The patient initially presented with persistent hyperpigmented plaques on her hands, which did not respond to the standard treatment for atopic dermatitis. The patient later developed respiratory failure and lung fibrosis in Vietnam. This case underscores the challenges in diagnosing and managing CADM, particularly in patients with atypical presentations, and emphasizes the difficulties in managing such cases of CADM in the community setting.

The anti-MDA5-associated autoimmune disease represents a poorly understood entity. The study\'s objectives were to describe a cohort of interstitial lung disease (ILD) patients who were positive for anti-MDA5 autoantibody and identify clinical risk factors associated with survival.
This single-center cohort study included ILD patients positive for anti-MDA5 autoantibody. Baseline clinical features were registered, and survival analysis was performed to identify risk factors associated with worse survival.
Fifty-three ILD-MDA5 positive patients were included; twelve died during follow-up due to rapidly progressive interstitial lung disease (RP-ILD). Dermatological signs of anti-MDA5 (Gottron papules, Gottron sign, palmar papules, V-neck sign, facial dermatomyositis rashes, and skin ulcers) were strongly associated with death secondary to RP-ILD (HR: 3.7, 95% CI: 1.02-13.35). Patients with dermatological signs were younger, had higher anti-MDA5 autoantibodies titers, more frequent inflammatory patterns in HRCT evaluation, and less fibrosis extent in HRCT.
Dermatological manifestation in ILD patients to anti-MDA5 autoantibodies are associated with RP-ILD and short-term fatal outcomes. Dermatological signs may identify a subgroup of ILD-positive to anti-MDA5 patients with a high risk of RP-ILD.

Antikörper gegen das Melanom-Differenzierungsantigen 5 (Anti-MDA5-Antikörper) sind bei Patienten mit Dermatomyositis mit rasch fortschreitender interstitieller Lungenerkrankung und schlechter Prognose assoziiert. Eine frühe Diagnose ist essentiell, um die Prognose dieser Patienten zu verbessern. Das Ziel unserer Studie war es, typische Hautbefunde bei Patienten mit Anti-MDA5-positiver Dermatomyositis zu verifizieren sowie neue diagnostische Marker für das Vorhandensein von Anti-MDA5-Antikörpern (Anti-MDA5+ ) zu untersuchen.
Es handelt sich um eine retrospektive multizentrische Querschnitts-Kohortenstudie. 124 Patienten mit der Diagnose „Dermatomyositis“ nahmen an der Studie teil; 37 von ihnen hatten Anti-MDA5-Antikörper (Anti-MDA5+ ). Demographische Daten, Laborbefunde sowie klinische Befunde wurden dokumentiert.
Die Anti-MDA5-positive Dermatomyositis ist charakterisiert durch einen typischen mukokutanen Phänotyp mit oralen Läsionen, Alopezie, „Mechanikerhänden“, Papeln auf Handflächen und Handrücken, Palmarerythem, Vaskulopathie und Hautulzerationen. Vaskulopathie und Beteiligung der Fingerspitzen waren in unserer Klientel von Anti-MDA5+ -Patienten besonders häufig zu finden (p <0.001), so dass diese Befunde als diagnostischer Marker für das Vorhandensein der Anti-MDA5-Antikörper gelten können (OR 12.355; 95% KI 2,850-79,263; p  =  0,012 beziehungsweise OR  7.447; 95% KI  2,103-46,718; p  =  0,004). Ulzera sind als Marker für Anti-MDA5+ besonders zu erwähnen; in unserer Kohorte hatten bis zu 97% der Patienten mit Anti-MDA5-Antikörpern Ulzera.
Patienten mit Verdacht auf Dermatomyositis, die eine Beteiligung der Fingerspitzen oder eine Vaskulopathie aufweisen, sollten auf Anti-MDA5-Antikörper untersucht werden, da diese klinischen Befunde prädiktiv für das Vorhandensein der entsprechenden Antikörper sein können.

Melanoma differentiation-associated gene 5 antibody (anti-MDA5) in dermatomyositis (DM) is associated with rapidly progressive interstitial lung disease and poor prognosis. Early diagnosis is key to improving the prognosis of these patients. The aim was to confirm cutaneous characteristics in patients with anti-MDA5 dermatomyositis and to explore new diagnostic markers for the presence of anti-MDA5 (anti-MDA5+ ).
A multicenter cross-sectional retrospective cohort study of 124 patients diagnosed with DM, of which 37 were anti-MDA5+ . Demographic data, laboratory data, and clinical manifestations were collected.
Anti-MDA5+ DM is characterized by a distinct mucocutaneous phenotype that includes oral lesions, alopecia, mechanic\'s hands, palmar and dorsal papules, palmar erythema, vasculopathy, and skin ulceration. We found vasculopathy and digit tip involvement very frequently in anti-MDA5+ patients (p <0.001), being a diagnostic marker of anti-MDA5+ (OR, 12.355; 95% CI 2.850-79.263; p  =  0.012 and OR, 7.447; 95% CI 2.103-46.718; p  =  0.004, respectively). The presence of ulcers deserves special mention, especially in anti-MDA5+ patients, because in our cohort, up to 97% of the anti-MDA5+ patients had ulcers.
In patients with suspected DM with digit tip involvement or vasculopathy, the presence of anti-MDA5 antibodies must be ruled out, as it may be a clinical predictor.

A 24-year-old Senegalese woman without remarkable history except anemia and iron deficiency related to excessive menstrual bleeding and sickle cell trait was admitted to our internal medicine department with 4-month fever, weight loss (-13 kg), dyspnea for limited efforts, intermittent productive cough, and bilateral metacarpophalangeal (MCP) and interphalangeal arthralgia. She was born and lived in France. She traveled previously to Senegal in 2015. She had no history of tobacco, alcohol, or drug use nor proximity with animals. She was taking no medication.

OBJECTIVE: To investigate the levels and phenotypes of peripheral natural killer (NK) cells in anti-MDA5+ dermatomyositis (DM) patients, and their association with clinical features.
METHODS: Peripheral NK cell counts (NKCCs) were retrospectively collected from 497 patients with idiopathic inflammatory myopathies and 60 healthy controls. Multi-color flow cytometry was used to determine the NK cell phenotypes in additional 48 DM patients and 26 healthy controls. The association of NKCC and NK cell phenotypes with the clinical features and prognosis were analyzed in anti-MDA5+ DM patients.
RESULTS: NKCC was significantly lower in anti-MDA5+ DM patients than in those with other IIM subtypes and healthy controls. A significant decrease in NKCC was associated with disease activity. Furthermore, NKCC < 27 cells/μL was an independent risk factor for 6-month mortality in anti-MDA5+ DM patients. In addition, identification of the functional phenotype of NK cells revealed significantly increased expression of the inhibitory marker CD39 in CD56brightCD16dimNK cells of anti-MDA5+ DM patients. CD39+NK cells of anti-MDA5+ DM patients showed increased expression of NKG2A, NKG2D, Ki-67, decreased expression of Tim-3, LAG-3, CD25, CD107a, and reduced TNF-α production.
CONCLUSIONS: Decreased cell counts and inhibitory phenotype are significant characteristics of peripheral NK cells in anti-MDA5+ DM patients.