The COVID-19 pandemic has underscored the vital role of vaccination in mitigating widespread morbidity and mortality. Nevertheless, the global vaccination campaign has also brought to light rare but notable immune-mediated adverse events. Vaccination is inherently immune stimulatory, designed to provoke a robust immune response, and in rare instances, this heightened immune activity may unmask or trigger autoimmunity in genetically predisposed individuals. Proposed mechanisms include molecular mimicry, epitope spreading, and bystander activation, all of which can disrupt immune tolerance and initiate autoreactive responses. This case report explores a potential link between COVID-19 vaccination and the onset of dermatomyositis, adding to the growing body of literature examining the rare but important phenomenon of vaccine-associated autoimmunity.

Humans ; Dermatomyositis/diagnosis* ; Vascular Diseases

Dermatomyositis (DM) is a rare autoimmune myopathy characterized by progressive muscle weakness that typically affects the shoulder and hip girdle first. It is a multisystem disorder characterized by symmetric proximal, extensor, inflammatory myopathy, vascular involvement and a constellation of pathognomonic (Gottron papules, Gottron Sign, Heliotrope rash) and characteristic cutaneous eruptions, which frequently presents in the fifth and sixth decades. As adult DM presents as a paraneoplastic syndrome in up to 30% of cases, metastatic workups appropriate for age are warranted.

Background: Dermatomyositis - a rare autoimmune myositis – is a disease affecting primarily the skin and muscles which has been correlated with an elevated risk of solid tumors - commonly affecting the ovaries, breast, colon and nasopharynx. However, there is a rare association between dermatomyositis and pulmonary large cell neuroendocrine carcinoma such that in a thorough literature review of published material, only two cases have been reported internationally and none locally. Large cell neuroendocrine carcinoma - in itself, is also a rare malignancy representing only 1-3% of all primary lung carcinomas. Case Presentation: This is a case of a 53-year-old Filipino female, hypertensive, diabetic, dyslipidemic, hypothyroid - nonsmoker – who presented with an eight-month history of facial erythema, swelling of bilateral metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints, and erythema over extensor surfaces of the MCP and PIP joints. She had markedly elevated creatine kinase MM and positive anti-nuclear antibody for which she was prescribed prednisone, which she did not comply with. She lost weight and experienced severe abdominal pain. Abdominal imaging subsequently revealed multiple confluent abdominal and thoracic lymphadenopathy with histopathology of large cell neuroendocrine carcinoma (LCNEC). Peculiar to this case however is that despite being a lung carcinoma, the scan showed no pulmonary masses or nodules. Immunohistochemical stains of the lymph node were positive for neuroendocrine markers: pancytokeratin, synaptophysin, TTF-1 and negative for any mutation in the epidermal growth factor receptor. Her Ki-67, which is used as a prognostic factor and correlates with mitotic count - was 70% and PD-L1 tumor proportion score – a predictor of therapeutic effect - is 5-10%. She was subsequently diagnosed with dermatomyositis and pulmonary LCNEC. She has presently completed her 8th cycle of cisplatin and etoposide and has gained weight. Presently, her musculocutaneous lesions have resolved. However, a repeat PET scan was done still showing multiple confluent paraaortic, aortocaval, pericaval lymph nodes with no significant interval change from the first PET scan. Next generation sequencing had been requested showing DIS3 to be the gene altercation – however, as of this writing, no available therapeutic modalities are available to target this. Patient was nonetheless given Pembrolizumab for 3 cycles and subsequently expired due to complications of pneumonia. Conclusion Among published data, we herein present the third reported case of dermatomyositis associated with pulmonary large cell neuroendocrine carcinoma worldwide and the first reported case in the Philippines thereby contributing to the present medical literature. This case demonstrates two rare diseases associated with each other and exemplifies the need for an awareness of such disease entities. It demonstrates a rare case of LCNEC peculiarly without any pulmonary masses or nodules. It also illustrates the necessity in evaluating patients with dermatomyositis for their respective risk in terms of malignancy and other immunocompromised states. Lastly, it contributes to the knowledge on therapeutic options that may be given to patients presenting with both disease entities.
Dermatomyositis ; Lung Neoplasms

Juvenile Dermatomyositis (JDM) is a rare type of idiopathic inflammatory myopathy affecting children, characterized by symmetric proximal muscle weakness and pathognomonic cutaneous manifestation such as heliotrope rash and Gottron papules. In the Philippines, there are only 40 cases from 2011 to 2022. It is an autoimmune disease, although several studies have associated its onset to the presence of systemic infections. In cases complicated by systemic infection, early initiation of comprehensive treatment is essential in order to achieve remission.

This is a case of a 2-year old female presenting with a 2 month history of erythematous macules over the metacarpophalangeal (MCP), proximal interphalangeal (PIP), distal interphalangeal joints (DIP), and knees, nailfold changes, and facial erythema on sun exposure. This was associated with decreased activity, inability to walk continuously, and symmetric proximal muscle weakness. Skin punch biopsy was done which revealed interface vacuolar dermatitis, alcian blue stain positive. Laboratories revealed elevated ANA, aldolase, LDH, and SGPT which were all consistent with dermatomyositis. Patient was started on oral prednisone, hydroxychloroquine and topical corticosteroids. Notably, the patient was also diagnosed with pulmonary tuberculosis and ascariasis. Thus, she was also started on anti-Kochs regimen and mebendazole. After 2 months of steroid therapy and hydroxychloroquine, there was improvement in cutaneous lesions with significant increase in activity and mobility.

In a country where pulmonary tuberculosis and ascariasis is common, it is of utmost importance to probe for underlying infections which may occur with or may be contributory to the onset of juvenile dermatomyositis.

Objective: To elucidate the clinical features of patients with refractory juvenile dermatomyositis (JDM), and to explore the efficacy and safety of tofacitinib in the treatment of refractory JDM. Methods: A total of 75 JDM patients admitted to the Department of Rheumatology and Immunology in Shenzhen Children's Hospital from January 2012 to January 2021 were retrospectively analyzed, and to analyze the clinical manifestations, efficacy and safety of tofacitinib in the treatment of refractory JDM. Patients were divided into refractory group with using of glucocorticoids in combination with two or more anti-rheumatic drugs for treatment, and the presence of disease activity or steroid dependence after a one-year follow-up. The non-refractory group is defined as clinical symptoms disappeared, laboratory indicators were normal, and clinical remission was achieved after initial treatment, and the clinical manifestations and laboratory indexes of the two groups were compared. The Mann-Whitney U test, Fisher's precision probability test was used for intergroup comparison. Binary Logistic multivariate regression analysis was used to identify risk factors for refractory JDM. Results: Among the 75 children with JDM, 41 were males and 34 were females with a age of onset of 5.3 (2.3, 7.8) years. The refractory group consisted of 27 cases with a age of onset of 4.4 (1.5, 6.8) years, while the non-refractory group consisted of 48 cases with a age of onset of 5.9 (2.5, 8.0) years. Compared with 48 cases in the non-refractory group, the proportion of interstitial lesions and calcinosis in the refractory group was higher than that in the non-refractory group (6 cases (22%) vs. 2 cases (4%), 8 cases (30%) vs. 4 cases (8%), both P<0.05). Binary Logistic regression analysis showed that observation group were more likely to be associated with to interstitial lung disease (OR=6.57, 95%CI 1.22-35.31, P=0.028) and calcinosis (OR=4.63, 95%CI 1.24-17.25, P=0.022). Among the 27 patients in the refractory group, 22 cases were treated with tofacitinib, after treatment with tofacitinib, 15 of 19 cases (86%) children with rashes showed improvement, and 6 cases (27%) with myositis evaluation table score less than 48 score both were improved, 3 of 6 cases (27%) had calcinosis were relieved, and 2 cases (9%) had glucocorticoid-dependence children were successfully weaned off. During the tofacitinib treatment, there was no increase in recurrent infection, blood lipids, liver enzymes, and creatinine were all normal in the 22 cases. Conclusions: Children with JDM with calcinosis and interstitial lung disease are more likely to develop refractory JDM. Tofacitinib is safe and effective for refractory JDM.
Child ; Female ; Male ; Humans ; Dermatomyositis/drug therapy* ; Retrospective Studies ; Risk Factors ; Calcinosis ; Glucocorticoids/therapeutic use*

Humans ; Dermatomyositis/therapy*

A 60-year-old Filipino woman diagnosed with dermatomyositis was initially on prednisone and methotrexate. She eventually developed interstitial lung disease (ILD) and so methotrexate was shifted to azathioprine; however, azathioprine was discontinued due to cutaneous tuberculosis. Over eight years, the dermatomyositis was controlled by prednisone alone but the ILD worsened. This case demonstrated that the course of ILD may be independent of dermatomyositis.
dermatomyositis ; interstitial lung disease ; immunomodulator

To investigate the clinical and immunological features of dermatomyositis (DM) complicated with macrophage activation syndrome (MAS). The demographic and clinical characteristics of five patients diagnosed with DM complicated with MAS hospitalized in the Department of Rheumatology and Immunology, Peking University People ' s Hospital from 2011 to 2021 were collected. The results of clinical manifestations, laboratory tests, immunological features, treatments and prognosis were analyzed and summarized. In this study, five female patients in Peking University People's Hospital with an average age of 63.8 (44.0-83.0) years and an average disease duration of 16.1 (1.5-48.0) months. All the patients had typical DM rash (such as heliotrope sign, V/shawl sign or Gottron's sign/papules). They all had muscle involvement (including myalgia or muscle weakness). Two patients had positive myositis-specific antibodies (MSAs), in which case 1 had anti-TIF1-γ antibody and case 5 had anti-NXP-2 antibody. Four patients had interstitial lung disease except case 3. All of the cases developed MAS in the active stage of DM. Common manifestations of MAS in these five patients included high-grade fever, cytopenia, decreased fibrinogen, elevated ferritin and increased soluble CD25. Case 1 presented with neutropenia (0.6×10⁹ /L), thrombocytopenia (26.0×10⁹ /L), hypofibrinogenemia (0.9 g/L), markedly elevated ferritin (26 331.0 μg/L), decreased NK cell activity. Case 2 had anaemia (hemoglobin 81.0 g/L), thrombocytopenia (55.0×10⁹ /L), hypertriglyceridemia (4.7 mmol/L), hypofibrinogenemia (1.2 g/L), elevated ferritin (>100 000.0 μg/L), hemophagocytosis in bone marrow. Case 3 had anaemia (hemoglobin 88 g/L), decreased fibrinogen (1.9 g/L), increased ferritin (>27 759.0 μg/L), splenomegaly, hemophagocytosis in bone marrow. Case 4 suffered from neutropenia(0.3×10⁹ /L), anaemia(hemoglobin 78 g/L), hypertriglyceridemia (4.2 mmol/L), hypofibrinogenemia (0.9 g/L), increased ferritin (>100 000.0 μg/L), and decreased NK cell activity. Case 5 presented anaemia (hemoglobin 60.0 g/L), thrombocytopenia (67.0×10⁹ /L), hypertriglyceridemia (12.7 mmol/L), decreased fibrinogen (1.1 g/L), and elevated ferritin (>923.0 μg/L). All the patients were treated with methylprednisone pulse therapy (200-500 mg) combined with cyclosporine while case 5 received rituximab after methylprednisone pulses. In addition, case 3 also received the combination of mycophenolate mofetil. Case 1 was given etoposide while case 4 was treated with cyclophosphamide and repeated plasmapheresis at the same time. Moreover, intravenous immunoglobulin was added meantime apart from case 3. The condition of four patients improved significantly, nevertheless case 4 experienced recurred pulmonary symptoms and died of respiratory failure. As for complications about infection, case 2 had bacterial infection with high level procalcitonin (PCT) before MAS treatment and condition was improved after empiric antibacterial therapy. Case 3 had cytomegalovirus DNAemia before diagnosis of MAS and viral titer turned negative after ganciclovir therapy. After treatment of MAS, four patients developed cytomegalovirus DNAemia except case 3, in which case 5 was co-infected with bacteria. To sum, DM complicated with MAS is relatively rare, and its patients are of ten in life-threatening condition. Early detection, treatment and prevention of infection during treatment are critical to improve the prognosis.
Humans ; Female ; Middle Aged ; Dermatomyositis/complications* ; Macrophage Activation Syndrome/complications* ; Afibrinogenemia/complications* ; Autoantibodies ; Neutropenia ; Thrombocytopenia/complications* ; Ferritins/therapeutic use* ; Hypertriglyceridemia/complications* ; Fibrinogen/therapeutic use*

Humans ; Dermatomyositis/pathology* ; Interferon-Induced Helicase, IFIH1/genetics* ; Lung Diseases, Interstitial ; Autoantibodies ; Retrospective Studies