Abstract An 18-year-old female with Systemic Lupus Erythematosus (SLE) presented with bilateral thigh pain, fever, and diarrhea three days before admission. Diagnosed with SLE one month earlier, she reported prior symptoms, including joint pain, malar rash, hair loss, and hyperpigmented lesions. Initial investigations revealed elevated transaminase levels (AST 355, ALT 132), positive ANA, decreased complement levels (C3 68, C4 16.8), and raised creatine kinase (619). A muscle biopsy confirmed myositis. The patient was treated with immunosuppressant (a combination of steroids and hydroxychloroquine) and supportive therapy. By the eighth day of hospitalization, her symptoms, especially thigh pain, resolved. Electromyocardiography was done, and the results were normal, indicating therapeutic success. This case highlights the importance of prompt diagnosis and management of myositis as a rare SLE manifestation to achieve favorable outcomes.
Systemic Lupus Erythematosus (SLE) ; Myositis ; Muscle Biopsy ; Electromyocardiography

OBJECTIVES: To investigate the distribution of myositis-specific antibodies (MSA) in juvenile dermatomyositis (JDM) and the relationship between MSA and clinical features of JDM. METHODS: Clinical data of 72 children with JDM hospitalized from January 2020 to April 2025 were reviewed retrospectively, all of whom had been tested for MSA. The relationship between common MSA subtypes and clinical features was analyzed. RESULTS: Among the 72 children, 45 (62%) were positive for MSA, including 27 anti-NXP2-positive cases (38%), 10 anti-MDA5-positive cases (14%), and 3 anti-cN1A-positive cases (4%). Compared with the MSA-negative group, the anti-MDA5-positive patients showed significantly higher incidence rates of fever, arthritis, and interstitial lung disease (P<0.05). The anti-NXP2-positive patients exhibited significantly higher incidence rates of calcinosis, fever, soft tissue edema, and interstitial lung disease than the MSA-negative patients (P<0.05). Compared with the anti-MDA5-positive group and MSA-negative group, the anti-NXP2-positive group had significantly higher levels of creatine kinase and creatine kinase isoenzyme (P<0.017) and a significantly lower score of the Childhood Myositis Assessment Scale (P<0.017). CONCLUSIONS The positive rate of MSA is high in children with JDM, with different subtypes correlating with specific clinical manifestations and organ involvement. Detection of MSA is crucial for diagnosis and clinical management of JDM.
Humans ; Dermatomyositis/immunology* ; Male ; Female ; Child ; Retrospective Studies ; Interferon-Induced Helicase, IFIH1/immunology* ; Child, Preschool ; Autoantibodies/blood* ; Adolescent

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital bilateral malformation of the large toe and progressive, extensive, and irreversible heterotopic ossification (HO) of soft tissues throughout the body, leading to severe disabilities. FOP is caused primarily by mutations in activin A receptor type 1 (ACVR1), also known as activin-like kinase 2 (ALK2), which encodes a receptor belonging to the bone morphogenetic protein (BMP) type I family. However, the continuous and complex process of HO in FOP is not yet fully understood, which has impeded the development of therapeutic drugs. Despite surgical removal of HO, which often results in recurrence and expansion of ossification, there is currently no definitive drug treatment available to completely prevent, halt, or reverse the progression of HO in FOP. Currently, researchers are intensively studying the pathogenesis of FOP at various stages and developing promising drug candidates, including saracatinib, palovarotene, and rapamycin. This review provides an overview of progress in understanding the mechanism of FOP and the development of therapeutic drugs, with the goal of providing insights for further research and the development of new treatment methods.
Myositis Ossificans/genetics* ; Humans ; Activin Receptors, Type I/genetics* ; Ossification, Heterotopic ; Mutation ; Sirolimus/therapeutic use* ; Quinolones/therapeutic use* ; Benzodioxoles/therapeutic use* ; Animals ; Quinazolines/therapeutic use*

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.

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.

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.

Anesthesiologists have been at the forefront of initiatives addressing perioperative patient safety. As anesthesia has no direct therapeutic benefit, its risk must be minimized. At times the surgery is simple but the patient’s condition complicates anesthetic management, increasing the risk for complications. This report describes the anesthetic management of an adult patient diagnosed with inclusion body myositis (IBM), a rare inflammatory degenerative myopathy, who initially presented with decreased motor function in both lower and upper extremities causing him to be bedbound for two years. Due to the progression of his disease, he eventually developed dysphagia, hence he was scheduled for esophagoscopy, cricopharyngeal Botox injection, and percutaneous endoscopic gastrostomy. As patients with IBM are at risk for exaggerated sensitivity to neuromuscular blockers and respiratory compromise, anesthesia was at the helm of a multidisciplinary team approach. The perioperative management centered on preoperative optimization, prevention of aspiration, avoidance of anesthetics that may trigger malignant hyperthermia, and prevention of postoperative pulmonary complication. The hospital course was uncomplicated and the patient was discharged well after one day. This report emphasizes how improvements in resources, technology, and healthcare delivery, especially in anesthesia, help prevent perioperative adverse events.
Patient Safety ; Myositis, Inclusion Body ; Malignant Hyperthermia

Humans ; Dermatomyositis/diagnosis* ; Vascular Diseases

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

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.