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*

Antibodies, Monoclonal, Humanized/therapeutic use* ; Autoantibodies ; Dermatomyositis ; Disease Progression ; Humans ; Lung Diseases, Interstitial/drug therapy*

PURPOSE: To study the treatment outcomes in patients who were administered multiple intravitreal ganciclovir injections more than 10 times alone without systemic anti-cytomegalovirus therapy for cytomegalovirus retinitis. CASE SUMMARY: A 64-year-old man who underwent immunosuppressive therapy after thymectomy due to an invasive thymoma and pure red-cell aplasia, a 60-year-old woman who underwent chemotherapy after diagnosis of diffuse large B-cell lymphoma, a 49-year-old man with a history of bone marrow transplantation due to acute myeloid leukemia, a 29-year-old woman with dermatomyositis treated with oral steroids and cyclosporine, and a 47-year-old woman who received intravitreal dexamethasone implant injections, intravitreal and subtenon steroid injections due to Behcet's disease were diagnosed with cytomegalovirus retinitis. All patients showed systemic complications such as pancytopenia after systemic anti-cytomegalovirus therapy, and therefore, they were administered multiple intravitreal ganciclovir injections alone. Best-corrected visual acuities improved in all patients, except in one case, where viral lesions were observed in the fovea. Retinal hemorrhaging and infiltrative lesions decreased in all patients. No severe complication was observed during the injection and in the follow-up period. CONCLUSIONS: Multiple intravitreal ganciclovir injections alone can be used as a treatment modality for cytomegalovirus retinitis to avoid the systemic side effects of systemic anti-cytomegalovirus therapy.
Adult ; Bone Marrow Transplantation ; Cyclosporine ; Cytomegalovirus Retinitis* ; Cytomegalovirus* ; Dermatomyositis ; Dexamethasone ; Diagnosis ; Drug Therapy ; Female ; Follow-Up Studies ; Ganciclovir* ; Humans ; Intravitreal Injections ; Leukemia, Myeloid, Acute ; Lymphoma, B-Cell ; Middle Aged ; Pancytopenia ; Red-Cell Aplasia, Pure ; Retinaldehyde ; Steroids ; Thymectomy ; Thymoma ; Visual Acuity

Cholangiocarcinoma with paraneoplastic dermatomyositis (DM) is extremely rare, and the whole body positron emission tomography-computed tomography (PET-CT) finding of paraneoplastic DM is rarely reported. We report a 66-year-old woman with metastatic cholangiocarcinoma, initially presented with bilateral proximal muscle uptake on PET-CT without clinical muscle symptoms. The initial interpretation of the high muscle uptake was metastasis to the muscles. However, while awaiting for chemotherapy, muscle weakness evolved and rapidly progressed. The level of creatine phosphokinase was significantly elevated. Electromyography revealed moderate myopathy, and a muscle biopsy showed degenerating myofibers with variable sizes. The diagnosis of paraneoplastic dermatomyositis was made. This case highlights that, although rare, paraneoplastic dermatomyositis can be present with cholangiocarcinoma. Also, muscle inflammation can precede the clinical muscle symptoms, and paraneoplastic DM should be considered as a possible differential diagnosis in the assessment of cancer patients who present with abnormal muscle tracer uptake in PET-CT scans.
Aged ; Biopsy ; Cholangiocarcinoma* ; Creatine Kinase ; Dermatomyositis* ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Electromyography ; Electrons* ; Female ; Humans ; Inflammation ; Muscle Weakness ; Muscles ; Muscular Diseases ; Neoplasm Metastasis ; Positron-Emission Tomography

Cholangiocarcinoma with paraneoplastic dermatomyositis (DM) is extremely rare, and the whole body positron emission tomography-computed tomography (PET-CT) finding of paraneoplastic DM is rarely reported. We report a 66-year-old woman with metastatic cholangiocarcinoma, initially presented with bilateral proximal muscle uptake on PET-CT without clinical muscle symptoms. The initial interpretation of the high muscle uptake was metastasis to the muscles. However, while awaiting for chemotherapy, muscle weakness evolved and rapidly progressed. The level of creatine phosphokinase was significantly elevated. Electromyography revealed moderate myopathy, and a muscle biopsy showed degenerating myofibers with variable sizes. The diagnosis of paraneoplastic dermatomyositis was made. This case highlights that, although rare, paraneoplastic dermatomyositis can be present with cholangiocarcinoma. Also, muscle inflammation can precede the clinical muscle symptoms, and paraneoplastic DM should be considered as a possible differential diagnosis in the assessment of cancer patients who present with abnormal muscle tracer uptake in PET-CT scans.
Aged ; Biopsy ; Cholangiocarcinoma* ; Creatine Kinase ; Dermatomyositis* ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Electromyography ; Electrons* ; Female ; Humans ; Inflammation ; Muscle Weakness ; Muscles ; Muscular Diseases ; Neoplasm Metastasis ; Positron-Emission Tomography

Carcinoma ; Dermatomyositis ; drug therapy ; Dexamethasone ; therapeutic use ; Humans ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; complications ; Paraneoplastic Syndromes ; drug therapy ; Prednisone ; therapeutic use

Dermatomyositis is an idiopathic inflammatory myopathy with typical cutaneous manifestations. It has been proposed that dermatomyositis may be caused by autoimmune responses to viral infections. Previous studies have shown an association between dermatomyositis and malignant tumors such as ovarian cancer, lung cancer, and colorectal cancer. However, a chronic hepatitis B virus (HBV) infection associated with dermatomyositis and hepatocellular carcinoma (HCC) has been very rarely reported. Here, we report a rare case of dermatomyositis coinciding with HBV-associated HCC. A 55-year-old male was confirmed to have HCC and dermatomyositis based on proximal muscle weakness, typical skin manifestations, elevated muscle enzyme levels, and muscle biopsy findings. This case suggests that HCC and/or a chronic HBV infection may be factors in the pathogenesis of dermatomyositis through a paraneoplastic mechanism.
Antiviral Agents/therapeutic use ; Biopsy ; Carcinoma, Hepatocellular/diagnosis/*virology ; Dermatomyositis/diagnosis/drug therapy/*virology ; Disease Progression ; Fatal Outcome ; Glucocorticoids/therapeutic use ; Hepatitis B, Chronic/*complications/diagnosis/drug therapy ; Humans ; Liver Neoplasms/diagnosis/*virology ; Male ; Middle Aged ; Paraneoplastic Syndromes/diagnosis/drug therapy/*virology ; Risk Factors ; Time Factors ; Tomography, X-Ray Computed ; Treatment Outcome

OBJECTIVETo explore the clinical and laboratory features and the prognosis of juvenile dermatomyositis (JDM) complicated with interstitial lung disease (ILD).

METHODData of 39 cases of JDM complicated with ILD hospitalized in Beijing Children's Hospital from January 2005 to December 2011 were collected. The clinical features, laboratory data and prognosis of these children were analyzed.

RESULTOf the 39 cases studied, 16 were boys, and 23 girls. The average age of onset was 5.6 years, and 61.5% of the patients' age of onset (24 cases) was under 6 years. Rashes (17 cases, 43.6%), simultaneous eruption of rashes and muscle weakness (14 cases, 35.9%), fever (4 cases, 10.1%), or muscle weakness (3 cases, 7.7%) were common initial symptoms of the disease. Only 51.3% of the patients (20 cases) had the symptoms of respiratory system, but (24 cases) 61.5% were complicated with that of the gastrointestinal system; (27 cases) 69.2% had at the same time electrocardiographic and echocardiographic abnormalities. The chest high resolution computed tomography (HRCT) showed cord or band-like shadows in their lungs of more than half of the cases (25 cases, 64.1%), and other changes included ground glass-like shadow (10 cases, 25.6%), net and lineation-like shadow (9 cases, 23.1%), nodular change (5 cases, 12.8%). The patients complicated with lung essential infiltration accounted for as high as 71.8% (28 cases). These imaging changes were largely seen on both dorsal sides of their lungs. Severe patients also had mediastinal emphysema, pneumothorax, pneumorrhagia or aerodermectasia. Twenty-four patients underwent pulmonary function examination, and 62.5% of the patients' pulmonary function (15 cases) was abnormal. The fatality rate of the cases studied was 10.1%.

CONCLUSIONThe imaging changes of patients suffering from JDM with ILD were often more severe as compared to the clinical symptoms, and were often complicated with damages to other systems and organs. The prognosis of those patients was poorer than others. Patients with JDM especially at a younger age of onset and with various organ damages should be examined with chest HRCT examinations as early as possible.

Child ; Child, Preschool ; Dermatomyositis ; complications ; diagnosis ; drug therapy ; Female ; Glucocorticoids ; administration & dosage ; therapeutic use ; Humans ; Immunosuppressive Agents ; administration & dosage ; therapeutic use ; Lung ; diagnostic imaging ; pathology ; Lung Diseases, Interstitial ; diagnosis ; drug therapy ; etiology ; Male ; Methotrexate ; administration & dosage ; therapeutic use ; Muscle Weakness ; diagnosis ; epidemiology ; etiology ; Prognosis ; Respiratory Function Tests ; Retrospective Studies ; Tomography, X-Ray Computed

Dermatomyositis is a rare and idiopathic inflammatory myopathy with characteristic cutaneous manifestations. A 61-year-old female presented with the chief complaints of proximal muscle weakness, facial edema and erythema on the face, chest and back. The patient was diagnosed with dermatomyositis by the clinical manifestation, laboratory findings and an electromyogram. After a year following appropriate treatment, a tonsil cancer was found. The patient was treated with three rounds of neoadjuvant chemotherapy and wide excision of the left tonsil. In Korea, a few cases of dermatomyositis have been reported associated with stomach cancer, breast cancer, acute lymphoblastic leukemia and lung cancer, but no associated cases with tonsil cancer have yet been reported. We report a case of tonsil cancer that developed in a patient with dermatomyosits during therapy.
Breast Neoplasms ; Dermatomyositis* ; Drug Therapy ; Edema ; Erythema ; Female ; Humans ; Korea ; Lung Neoplasms ; Middle Aged ; Muscle Weakness ; Myositis ; Palatine Tonsil* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Stomach Neoplasms ; Thorax ; Tonsillar Neoplasms*

We report a case of a 38-year-old male with extranodal NK/T-cell lymphoma, nasal type, showing unusual clinical and pathological features. The patient was admitted for soft tissue swelling and tenderness in both legs. The patient had been treated intermittently 8 months prior for repeated muco-cutaneous ulcers. A muscle biopsy showed medium-sized atypical lymphoid cells with bizarre nuclei and plump cytoplasm, infiltrating to the skeletal muscle fibers with angiocentricity. The immunoresults were Ki-1+, CD56+, cytoplasmic CD3+, with EBV-in situ hybridization +. The patient rapidly deteriorated and died of sepsis and respiratory failure shortly after initiation of low-dose chemotherapy. A careful review of previous biopsies revealed scarce atypical lymphoid cells around vessels with similar immunoprofiles without the presence of Ki-1 positive cells. This case emphasizes that an extranodal NK/T-cell lymphoma may have a dermatomyositis-like diffuse presentation. Ki-1 co-expression can be an unexpected event in a process of the disease course; however, this should be validated with future studies.
Adult ; Biopsy ; Cytoplasm ; Dermatomyositis* ; Drug Therapy ; Humans ; Leg ; Lymphocytes ; Lymphoma* ; Male ; Muscle Fibers, Skeletal ; Respiratory Insufficiency ; Sepsis ; Ulcer