Primary biliary cholangitis (PBC) can be accompanied by interstitial lung disease (ILD) manifesting as granulomatous interstitial lung disease, but the mechanism of granuloma formation remains unclear. We report a case of PBC-ILD coexisting with anti-synthetase syndrome (ASS) in a 49-year-old woman who presented with persistent cough, facial rash, and arthritis. Laboratory tests demonstrated cholestatic enzyme elevation, anti-mitochondrial M2 positivity, and anti-aminoacyl-tRNA synthetase antibody positivity, with elevated KL-6 and SP-D levels. High-resolution CT revealed lower-lobe-predominant ground-glass opacities. Bronchoalveolar lavage fluid showed lymphocytosis with high CD4/CD8 ratio. Liver biopsy confirmed PBC. Surgical lung biopsies revealed epithelial-interface injury and focal apoptosis of bronchiolar and alveolar epithelium accompanied by CD4-dominant T-cell infiltration and non-caseating granulomas (NCGs). Segment 2 showed cellular NSIP pattern and segment 9 showed fibrotic NSIP pattern. NCGs were more prominent in the cellular NSIP areas and decreased in the fibrotic NSIP areas. These findings suggest a possible pathological continuum from active inflammation by epithelial-interface injury to fibrotic remodeling. These observations may highlight the potential relevance of generalized autoimmune epithelitis in the pathogenesis of PBC-ILD.

Interstitial lung disease (ILD), an uncommon but severe complication of juvenile dermatomyositis (JDM), contributes disproportionately to morbidity and mortality despite its insidious and initially asymptomatic presentation. Clinical practice focuses on the detection of established lung damage, however it is vital to identify at-risk patients and provide deeper mechanistic understanding towards proactive care and clinical vigilance. Emerging evidence suggests that JDM-associated ILD represents an interferon (IFN)-driven immunobiological endotype, shaped by myositis-specific autoantibodies and distinct cytokine profiles. Within this framework, biomarkers operate across interconnected layers, from autoantibody-defined risk to pathway activation and tissue injury. While autoantibody profiling is clinically actionable, cytokine and IFN-related biomarkers remain investigational. Integrating these insights may enable earlier risk stratification, tailored monitoring, and targeted therapies.

Dysphagia is a common and clinically significant complication in idiopathic inflammatory myopathies (IIM), contributing to aspiration pneumonia, malnutrition, and reduced quality of life. However, its prognostic significance in terms of survival and swallowing outcomes remains unclear. A narrative review was conducted using PubMed to identify relevant studies published between January 2000 and April 2026. Dysphagia in IIM is associated with increased mortality, primarily due to aspiration-related complications and underlying disease severity. Emerging evidence indicates that this association may be modified by the presence of malignancy, particularly in dermatomyositis. Swallowing outcomes are heterogeneous: some patients show improvement with immunosuppressive therapy or intravenous immunoglobulin, whereas others experience persistent or progressive dysfunction, especially those with inclusion body myositis. Key prognostic factors include age, disease subtype, autoantibody status, and baseline severity of dysphagia. Dysphagia in IIM should be recognized as a clinically important manifestation associated with both survival and functional outcomes. Early identification and appropriate management are essential to improve patient prognosis. Further prospective studies are needed to establish standardized assessment and risk stratification strategies.

ObjectivesAnti-signal recognition particle (SRP) myositis is a rare subset of immune-mediated necrotizing myopathy (IMNM). It is characterized by proximal muscle weakness, markedly elevated serum creatine kinase (CK) levels, and poor response to conventional therapies. Evidence for optimal management remains limited, particularly regarding the long-term outcomes of rituximab treatment.MethodWe retrospectively reviewed anti-SRP myositis patients who received rituximab at Seoul National University Hospital. Diagnosis was based on clinical features, elevated CK levels, and positivity for anti-SRP antibodies. Demographic, clinical, laboratory, radiological, histopathological, and treatment data were collected.ResultsFive patients, aged between 4 and 71 years, exhibited proximal muscle weakness, elevated CK levels, and variable disease severity. Rituximab induction followed by maintenance therapy led to a significant improvement in muscle strength and normalization of CK and aldolase levels. In patients with mild or subclinical phenotypes, aldolase elevations often preceded clinical relapses. Relapses during follow-up were managed with rituximab re-administration, which restored muscle strength and biochemical markers. MRI, EMG, and muscle biopsy findings were consistent with myopathic changes.ConclusionsThis case series highlights the heterogeneity in age, disease severity, and clinical course of anti-SRP myositis and the efficacy of rituximab in refractory and relapsing cases. Multimodal monitoring, including CK, aldolase, CD19+ B-cell counts, and clinical assessment, is essential for the early detection of relapses. Our findings support rituximab as a valuable component of individualized treatment strategies for anti-SRP myositis, though larger studies are warranted to establish standardized protocols and clarify long-term outcomes.

Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease primarily affecting exocrine glands, with less frequent but significant extraglandular manifestations. Among these, inflammatory myopathy (IM) is rare, particularly in biopsy-proven cases. We report the case of a 63-year-old female with a history of hypertension, type 2 diabetes mellitus, and chronic statin use who presented with progressive, symmetric proximal muscle weakness of 8 months' duration. Neurological examination revealed flaccid weakness without sensory involvement. Laboratory evaluation showed markedly elevated creatine phosphokinase levels and positive anti-HMG-CoA reductase and anti-Ro52 antibodies. Magnetic resonance imaging of the thighs demonstrated diffuse myoedema. Muscle biopsy revealed myonecrosis, myophagocytosis, and lymphocytic infiltration, consistent with IM. Schirmer's test and salivary gland biopsy confirmed the diagnosis of pSS. IM may rarely occur in pSS and can be easily overlooked in the context of long-term statin use. A high index of suspicion, combined with detailed immunologic workup and tissue biopsy, is essential for accurate diagnosis and timely immunosuppressive therapy.

Purpureocillium lilacinum (P. lilacinum) is a rare opportunistic mold that predominantly affects immunocompromised hosts and exhibits intrinsic resistance to several conventional antifungal agents. Pulmonary infection is uncommon, and only a limited number of cases have been reported in patients with autoimmune connective tissue diseases receiving immunosuppressive therapy. We report a 37-year-old male hospital social worker with anti-Jo-1-positive myositis-associated interstitial lung disease receiving corticosteroids and mycophenolate mofetil who presented with hemoptysis and dyspnea. Computed tomography of the thorax demonstrated bilateral ground-glass opacities, multilobar consolidation, tree-in-bud nodularity, and mediastinal lymphadenopathy. Bronchoalveolar lavage fungal culture yielded P. lilacinum, with species identification confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Because second-generation triazoles were unavailable at the time of diagnosis, treatment was initiated with oral itraconazole (200 mg twice daily) together with temporary cessation of immunosuppressive therapy. The patient experienced rapid clinical improvement, with resolution of the acute pulmonary infiltrates on follow-up computed tomography after three months and a negative follow-up sputum fungal culture after six months of therapy. Immunosuppressive treatment was subsequently reintroduced without recurrence of infection or progression of interstitial lung disease during follow-up. This case highlights the diagnostic challenge of probable pulmonary P. lilacinum infection in immunosuppressed patients with myositis-associated interstitial lung disease. It demonstrates a favorable clinical course during prolonged oral itraconazole therapy when preferred antifungal agents were unavailable. However, treatment outcomes should be interpreted with caution, as this is a single case, and concomitant antibacterial therapy, along with temporary modification of immunosuppressive therapy, may also have contributed to recovery.

Dermatomyositis (DM) is an idiopathic inflammatory myopathy with cutaneous and systemic manifestations influenced by autoantibody profiles. We report a rare case of anti-nuclear matrix protein 2 (anti-NXP2)-antibody-positive DM in a previously healthy man in his 30s presenting with fulminant proximal muscle weakness, severe dysphagia requiring percutaneous endoscopic gastrostomy, massive anasarca (>30 kg fluid overload), respiratory failure requiring mechanical ventilation and tracheostomy, and characteristic cutaneous manifestations. MRI demonstrated diffuse myositis and elevated muscle enzymes with anti-NXP2 antibody positivity supporting the diagnosis. Treatment with pulse corticosteroids, intravenous immunoglobulin and subsequent azathioprine resulted in biochemical and clinical improvement, although the course was complicated by pulmonary embolism, pneumonia and gastrointestinal bleeding. Following prolonged immunosuppression and intensive multidisciplinary rehabilitation, the patient achieved substantial functional recovery. This case highlights the potential reversibility of even fulminant anti-NXP2-positive DM with timely aggressive treatment and rehabilitation.

BackgroundThe classification of idiopathic inflammatory myopathies (IIMs) has evolved substantially with the identification of myositis-specific autoantibodies (MSAs). However, how contemporary classification frameworks are applied in routine clinical practice remains variable. This study provides a clinicopathological and serological characterization of IIMs from a national neuromuscular referral center in Cyprus.MethodsWe conducted a retrospective, single-center cohort study of adult patients diagnosed with IIM between 2007 and 2025. Patients were classified using a clinicopathological and serological approach into dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), antisynthetase syndrome (ASyS), overlap myositis (OM), inclusion body myositis (IBM), and polymyositis (PM), with the 2017 EULAR/ACR criteria used as a reference framework and historical diagnoses re-evaluated.Results36 patients were included. Final subtype distribution: IMNM in 14 patients (39%), DM in 7 (19%), IBM in 4 (11%), OM in 5 (14%), ASyS in 3 (8%), PM in 2 (6%). Only one patient remained non-classifiable. Autoantibody testing was performed in 26/36 patients; MSAs were detected in 19/26 tested (73%; 53% of the total cohort), most commonly anti-HMGCR, while anti-NT5C1A antibodies were detected in three additional patients. Muscle biopsy was performed in the majority of patients, reflecting historical diagnostic practices.ConclusionThis study demonstrates real-world application of contemporary IIM classification, enabling accurate disease subtyping with direct implications for malignancy surveillance and interstitial lung disease monitoring, as well as reclassification of cases, most notably those previously labelled as PM. The findings further underscore the role of muscle biopsy, particularly when serology is negative, discordant, or unavailable.

Immune-mediated necrotizing myopathy (IMNM) is a variant of inflammatory myopathies, characterized by muscle fiber necrosis and regeneration with minimal inflammatory infiltration, associated with a potentially severe clinical course and difficult management. We report the case of a 64-year-old woman with a history of type 2 diabetes mellitus who presented with progressive proximal weakness, dysphagia, and prostration of one month's duration. She developed severe muscle involvement requiring subsequent mechanical ventilation. Initial studies showed markedly elevated creatine phosphokinase (CPK) levels (>10 000 U/L), and muscle biopsy revealed fiber necrosis and regeneration with scant inflammatory infiltrate, consistent with IMNM. Intensive treatment with methylprednisolone pulses and intravenous immunoglobulin was initiated, followed by the addition of methotrexate, azathioprine, and rituximab. Under this combined regimen, the patient showed a favourable evolution with progressive decline of CPK, functional recovery of muscle strength, and improvement of dysphagia, being discharged in ambulatory conditions with minimal assistance. An interdisciplinary approach and early implementation of intensive immunosuppression are essential to reverse unfavourable progression and optimize the functional prognosis of these patients.