Symmetrical Proximal Muscle Weakness Research Articles

Anti-synthetase and myelodysplastic syndromes with deep morphea: an example of shared immunopathogenesis? A case-based review.

Anti-synthetase syndrome (AS) is a subset of idiopathic inflammatory myopathy (IIM) characterized by the presence of anti-aminoacyl-transfer RNA synthetase accompanied by myositis, interstitial lung disease and other clinical features. According to a recent multicentric study, 31% of AS patients present skin lesions compatible with dermatomyositis, but sclerodermiform features are rare. Therefore, we aimed to report the case of a patient with simultaneous diagnosis of AS, deep morphea, vasculitic neuropathy, and myelodysplastic syndrome and review the current literature regarding these uncommon associations. A 57 year old man with axial and symmetrical proximal muscle weakness, skin thickening and B symptoms, later diagnosed with PL7 + AS, deep morphea, myelodysplastic syndrome (MDS) and vasculitic neuropathy documented by histopathologic studies and immunologic assessments. Since both AS and deep morphea share the vasculopathic changes and type II interferon-induced inflammation, we hypothesize that they may share pathogenic mechanisms. The muscle biopsy of the patient was consistent with AS and showed focal neutrophil infiltration. The patient received intensive immunosuppressive therapy for AS and vasculitic neuropathy, with high dose steroids, intravenous immunoglobulin (IVIg) and rituximab. Nonetheless, he suffered an unfavorable evolution with a fatal outcome due to septic shock. Albeit sclerodermiform features are rare in patients with AS, we propose a pathogenic link among AS, deep morphea and the autoimmune/autoinflammatory signs of MDS. The vasculopathic changes along with the activation of the innate and adaptive immune system leading to the production of proinflammatory cytokines may have been one of the contributing factors for the coexisting diagnosis of the patient.

Coexistence of anti-KS and anti-TIF1-γ antibodies in clinically amyopathic dermatomyositis presenting with rapid progression of interstitial lung disease.

Polymyositis/Dermatomyositis (PM/DM) is an idiopathic inflammatory myopathy (IIM) manifesting mainly as symmetrical proximal muscle weakness and/or typical cutaneous features due to autoimmune mechanisms. Clinically amyopathic dermatomyositis (CADM) is a subset of DM that exhibits only the typical cutaneous features without any clinical muscle symptoms. Several autoantibodies have been found specifically in patients with PM/DM, including CADM patients. Anti-KS antibody is one of a group of anti-aminoacyl transfer RNA (ARS) antibodies that are mainly associated with fever, Raynaud's phenomenon, polyarthritis, and interstitial lung disease (ILD), whereas anti-TIF1-γantibody is frequently found in DM patients with malignancy. Here, we report a CADM patient having both anti-KS antibody and anti-TIF1-γantibody. This patient developed an acute exacerbation of ILD and was successfully treated with high dose corticosteroid pulse therapy together with immunosuppressive agents. Although earlier experience had indicated that the seminal characteristic of anti-KS-positive ILD was slowly developing disease onset with little or no progression over the clinical course, the present patient suffered rapidly progressive disease.

Polymyositis concomitant with hepatitis B virus infection: Treatment challenges.

Polymyositis is a chronic autoimmune disease that presents with symmetrical progressive proximal muscle weakness. The cause of this disease due to abnormal activation of macrophages that might be associated with systemic diseases such as other autoimmune diseases, malignancy or viral infections including hepatitis B virus. The aim of this case report was to highlight treatment challenges in a patient with polymyositis concomitant with hepatitis B. A 28-years-old man with history of completed hepatitis B treatment with negative viral load presented with symmetrical progressive weakness on both inferior proximal extremities. The patient complained of pain predominantly in both tights and calves. No dermatological manifestation was observed. Elevated muscle enzymes and liver function were observed. Along with the course of the disease, hepatitis B reactivation was discovered as hepatitis B virus DNA was re-detected. Treatment options of this patient (polymyositis concomitant with hepatitis B viral infection) remain challenging. The main treatment of polymyositis consists of high dose methylprednisolone and this immunosuppressant could worsen the hepatitis B virus infection. The patient was finally treated with combination of mycophenolic acid and methylprednisolone for polymyositis and entecavir for hepatitis B. After one month of treatment, the patient showed a clinical improvement. This case highlights that viral screening must be done prior to starting polymyositis treatment as it could concomitant with viral infections such as hepatitis B. Antiviral prophylaxis must be given 1-2 weeks before immunosuppression starts. Management for both polymyositis and hepatitis B is important with entecavir or tenofovir as the optimal agents against hepatitis B virus.

Myositis : Rare Presentation of Dengue, not Uncommon in Children

Dengue myositis is a recently recognized category of idiopathic inflammatory myopathies manifested as symmetric proximal muscle weakness with severe limb pain and high serum creatine kinase (CK) levels, in dengue patient (NS1 positive or IgM positive). A total 4 cases of dengue myositis were admitted at Shaheed Suhrawardy Medical College during the period from August to October, 2023. All were male & they presented mainly with severe limp pain with inability to walk they were diagnosed as dengue fever serologically. Two cases presented during febrile phase & two following fever. Their S. CPK level were high with mildly low platelet count. None of them developed shock or hemorrhagic manifestation. They were treated supportively and all 4 cases recovered without any sequelae. Dengue myositis in children is usually benign and is differentiated from other causes of flaccid paralysis by tenderness of calf and thigh muscles and raised CPK levels with other normal neurological findings. But sometimes it may result in serious consequences, so all children with dengue infection should be followed up carefully with S.CPK level J Bangladesh Coll Phys Surg 2023; 41: 101-104

Twenty‐nail dystrophy and alopecia areata in an adult male with thymoma‐associated myasthenia gravis: A case report

AbstractBackgroundTo date, there is no journal that reports the coexistence of thymoma‐associated myasthenia gravis, alopecia areata, and twenty‐nail dystrophy. This paper hypothesizes that the presence of thymoma increases the risk of these conditions.Case presentationThe patient was a 37‐year‐old Filipino who came in for a year of history of fluctuating, but progressive, left‐sided ptosis and diplopia; difficulty swallowing; dysarthria; and aspiration and symmetric proximal muscle weakness confirmed to be myasthenia gravis by abnormal repetitive nerve stimulation and the presence of thymoma on histology. Before his thymectomy, he also developed gradually worsening thinning and longitudinal ridging of all fingernails and toenails; and patches of bald areas on the scalp; diagnosed to be twenty‐nail dystrophy and alopecia areata, respectively, by a board‐certified dermatologist.ConclusionThymoma is the possible risk factor and link for the co‐occurrence of the three conditions in the present patient.

A Narrative Review of Acthar Gel for the Treatment of Myositis.

Idiopathic inflammatory myopathies (IIMs) are autoimmune disorders characterized by symmetric proximal muscle weakness and chronic inflammation, with an increased risk of morbidity and mortality. The current standard of care includes traditional immunosuppressive pharmacotherapies; however, some patients cannot tolerate or do not adequately respond to these therapies, highlighting the need for alternative treatments for refractory disease. Acthar® Gel (repository corticotropin injection) is a naturally sourced mixture of adrenocorticotropic hormone analogs and other pituitary peptides that has been approved by the US Food and Drug Administration since 1952 for use in patients with two subgroups of IIMs, dermatomyositis (DM) and polymyositis (PM). However, it has not been routinely used in the treatment of IIMs. While Acthar may induce steroidogenesis, it also has a steroid-independent mechanism of action by exerting immunomodulatory effects through the activation of melanocortin receptors on immune cells, such as macrophages, B cells, and T cells. Recent clinical trials, retrospective analyses, and case reports add to the growing evidence suggesting that Acthar may be effective in patients with DM and PM. Here we review the current evidence supporting the safety and efficacy of Acthar for the treatment of refractory DM and PM.

Clinical Significance of Myositis-Specific and Myositis-Associated Antibody Profiles in Dermatomyositis.

Myositis-specific autoantibodies (MSA) and myositis-associated autoantibodies (MAA) are clinically useful biomarkers that point to the diagnosis, clinical manifestations, and prognosis of dermatomyositis (DM). To estimate the prevalence of MSA as well as MAA and analyze possible clinical correlations of these autoantibodies in patients diagnosed with DM, we conducted a cross-sectional study of 30 patients who were diagnosed with DM. MSA were positive in 19 patients (63%) in which Mi 2 was positive in 8 (27%) patients, and this was the most frequently found MSA. A total of 11 (36.7%) patients showed positive MAA. AntiPM/Scl 75 and anti-Ro 52 were positive in 5 (16.7%) patients each and these were the most commonly found MAA. Anti-La was absent in all our patients. There were 8 (27%) patients in whom both MSA and MAA were positive. Either MSA and/or MAA were positive in 22 (73%) patients. On a bivariate analysis, the patients who were positive for anti-PM/Scl 75 showed a significant difference in manifesting cutaneous ulcers (P value 0.023). It was also found that anti-SAE-positive patients showed a significant difference with malignancy (P value 0.014). Anti-Ro 52-positive patients were less likely to have symmetrical proximal muscle weakness (P value 0.006). All patients who were anti-MDA 5 positive had myositis and none of the anti-MDA 5-positive patients had rapidly progressive interstitial lung disease (RPILD). More than one MSA in the same patient was noted in three patients.

Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency

Aims:To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD).Methods:Thirty-one patients with RR-MADD admitted to our hospital from January 2005 to November 2020 were enrolled, and their clinical data were collected. Pathological characteristics of the muscle tissue and possible pathogenic gene mutations were analyzed.Results:The most common clinical features in all patients were symmetrical proximal muscle weakness. Laboratory examination revealed elevated levels of creatine kinase, homocysteine, and uric acid, acylcarnitines, and organic acid. The muscle biopsy revealed typical pathological changes like lipid deposition. Genetic analysis identified ETFDH mutations in 29 patients, among which one had homozygotes, 19 had compound heterozygotes, 7 had heterozygous mutations, and 2 had heterozygous mutations of both ETFDH and ETFA. Two patients had no pathogenic gene mutations. All patients were treated with riboflavin, and their symptoms improved, which was consistent with the diagnosis of RR-MADD.Conclusion:The clinical manifestations and genetic test results of patients with RR-MADD are heterogeneous. Therefore, a comprehensive analysis of clinical, pathological, and genetic testing is essential for the early diagnosis of RR-MADD.

Subcutaneous immunoglobulin therapy shortens corticosteroid use in children with dermatomyositis: A case report

Dermatomyositis (DM) is a rare autoimmune disease characterized by symmetric proximal muscle weakness and skin rashes. Corticosteroids and methotrexate are mainly prescribed to treat dermatomyositis based on the consensus of experts. Intravenous immunoglobulin is used in severe cases to reduce the dose and duration of corticosteroid therapy, the number of flare-up periods, thereby reducing complications and sequelae. Subcutaneous immunoglobulin has advantages over intravenous immunoglobulin because it can be used at home and maintains stable blood gammaglobulin levels. We report a case of a 2-years old child with early-onset dermatomyositis treated with subcutaneous immunoglobulin. The child’s condition improved, and corticosteroids were discontinued after 18 months of treatment. We prove that subcutaneous immunoglobulin therapy can shorten the duration of corticosteroid therapy in children with dermatomyositis.

Autonomic dysfunction detected by skin sympathetic response in Lambert-Eaton myasthenic syndrome: a case report

BackgroundLambert-Eaton myasthenic syndrome (LEMS) is a type of paraneoplastic syndrome that may initially manifest itself with proximal weakness and gait abnormalities. Approximately up to 50% of LEMS patients have a primary autonomic dysfunction.Case presentationWe present here a case of a 75-year-old male with symmetric proximal muscle weakness, dry mouth and constipation. The cutaneous response to scratch and upright tilt-table testing were positive. A repetitive nerve stimulation test showed that there was a decremental response of compound muscle action potential (CMAP) amplitude at 3 Hz while an incremental response at 20 Hz. The presence of antibodies against voltage-gated calcium channels (VGCC) confirmed the diagnosis. Because of the prominent symptom of autonomic disorder, the patient further underwent the test of skin sympathetic response (SSR). Lower amplitude and longer response duration were found in palms, while it evoked no response in soles.ConclusionsIn this case, we present the detailed results of SSR test on a patient suffering LEMS with autonomic disorder. Since autonomic dysfunction has a significant impact on clinical management and SSR test is an effective detection method, we recommend that SSR test be performed on patients with LEMS regularly.

An Alternative Novel Therapy for the Treatment of Chronic Inflammatory Demyelinating Polyneuropathy: Adult Autologous Telomerase-Positive Stem Cells

Chronic inflammatory demyelinating polyneuropathy, e.g., chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), is a rare autoimmune mediated peripheral neuropathy. CIDP is defined as symptomology of greater than two months duration and electro diagnostic evidence of peripheral nerve demyelination. The estimated overall prevalence of CIDP is 4.8 to 8.9 cases per 100,000 people. Symptomology includes motor, sensory, and autonomic involvement resulting in symmetrical proximal and distal muscle weakness, loss of strength, areflexia of greater than eight weeks duration, numbness, weakness, sensory ataxia, paresthesia, decreased peripheral temperature, and gait disorder. As CIDP progresses there is axonal loss within mixed peripheral nerves secondary to demyelination, which is associated with a poor prognosis. Autoantibodies identified for CIDP thus far include contactin-1 (CNTN1), contactin-associated protein-1 (Caspr1), contactin-2 (CNTN2), neurofascin-155 (Nfasc-155), neurofascin-140/186(Nfasc-140/186), LM1, gliomedin, and vinculin. Another marker of CIDP is sphingomyelin protein in the cerebral spinal fluid. Potential treatment options for CIDP are first-line therapies, such as corticosteroids, plasma exchange, and/or immunoglobulins. If patients are refractory to first-line treatments to halt progression of the disease, then second-line therapies, such as chemotherapeutic drugs, immunosuppressive drugs, and/or immunomodulatory drugs, are utilized. Lastly, if first- and second-line therapies fail, novel unconventional therapies have been utilized, such as high-dose cyclophosphamide to eradicate a defective immune system containing CIDP-associated autoantibodies to nodal and par anodal proteins. This is then followed with either autologous or HLA-matched allogeneic hematopoietic stem cell transplantation (HSCT) with the intent to replace the defective immune system with a normal immune system absent of CIDP-associated autoantibodies. Whatever therapeutic treatment regimen(s) is/are utilized, maintenance treatments are required for years to maintain stasis in individuals with CIDP. Unfortunately, while first-line, second-line, and/or HSCT treatments may halt the progression of the CIDP and maintain individuals in stasis, they do little to restore neurophysiological function to the individual. We proposed an alternative unconventional therapy to treat CIDP, the use of adult autologous adult telomerase positive stem cells to halt progression of the disease and restore (neuro-) physiological function to the tissues. This hypothesis was based on previous clinical studies utilizing telomerase positive stem cells with Parkinson disease, Alzheimer’s disease, age- related dry macular degeneration, traumatic blindness, traumatic spinal cord injury, myocardial infarction, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, celiac disease, systemic lupus erythematosus, and osteoarthritis. Within this small cohort (n=3) clinical study, there were no adverse events reported for any participant treated. While there was no direct proof that the autologous telomerase positive stem cells contributed to the results seen in two of these participants, there was indirect proof for restoration of neurophysiological functions. This was demonstrated with respect to return of motor, sensory, and autonomic functions, e.g., increased strength, return of sensory input, return of reflexes, loss of numbness, increased blood flow, normal body temperature in extremities, and normal gait. Indirectly, this suggested that autologous telomerase positive stem cells are safe and demonstrate a 66% efficacy with respect to halting progression of chronic inflammatory demyelinating polyneuropathy and restoration of neurophysiological functions.

Dermatologic Manifestations of Systemic Diseases in Childhood

Dermatologic Manifestations of Systemic Diseases in Childhood

Sickle Cell Disease with Dermatomyositis - a Rare and Complex Comorbidity

Introduction and Case Presentation - A 4 yrs old female with sickle cell disease (SCD) and intermittent asthma presented with polyarthralgia predominantly involving bilateral hip and knee joints and became non-ambulatory over a course of 2 months. She developed chronic facial swelling, and a pruritic erythematous rash involving face, extensor surface of the hand and the right knee with significant weight loss. Physical examination was significant for heliotropic rash on the eyelids, Also present were Gottron's papules and macules on both hands and right knee along with right leg tenderness, muscle weakness, wasting and decreased range of motion at bilateral hip joints along with inguinal lymphadenopathy. Investigations were significant for severe anemia with hyperactive bone marrow, metabolic acidosis, normonatremic dehydration with absence of any evidence of an ongoing infectious process. Her Anti Nucleic acid antibody (ANA) panel, Aldolase, Rheumatoid factor and Angiotensin-1-Converting Enzyme levels were unremarkable. Creatine kinase levels were near normal. Her Neopterin and LDH levels were significantly elevated. Imaging with MRI scan with multiplanar multisequence of bilateral lower extremities and Pelvis showed significant diffuse myositis and soft tissue swelling. The diagnostic criterion for Juvenile Dermatomyositis include: (1) the typical pathognomonic rashes, (2) elevated muscle enzymes, (3) symmetric proximal muscle weakness and neck flexors, (4) muscle biopsy characteristic of juvenile dermatomyositis, and (5) EMG findings characteristic of juvenile dermatomyositis. Having ruled out an infectious process a muscle biopsy was performed, which also was subjected to Electron Microscopic (EM) analysis as the patient did not have extremely high muscle enzymes, necessitating a muscle biopsy . Hematoxylin & eosin stained sections were compatible with inflammatory myopathy. Ultrastructural examination demonstrated myofiber size variability, frequent rounded atrophic fibers with myofibrillar disarray, internalized nuclei, and increased interstitial collagen deposition. Endomysial capillaries were decreased in number, but showed reactive endothelial changes. Some showed prominent endothelial tubuloreticular inclusions (Figure),characteristic of JD. In summary, absence of serologic and tissue evidence of any other inflammatory myopathy, offending pharmacotherapy, infectious disease and presence of imaging and tissue evidence (vascular injury and tubuloreticular inclusions) comprised the work up of a child with SCD with Dermatomyositis.Management- Prompt treatment with prednisone (2 mg/kg/day), methotrexate (10 mg) weekly and monthly IVIG (2gm/kg/dose) infusions was started, once diagnosis was confirmed showing a dramatic clinical response. Prednisone was slowly tapered after 1 month of treatment. She showed gradual improvement in her symptoms, the strength in proximal muscle in both upper and lower limbs improved eventually to a point where the contractures in the elbows and knees improved and she started ambulating without support. Patient's Hydroxyurea was restarted at a low dose of 15mg/kg/day and increased to 20 mg/kg/day slowly, as her systemic symptoms of Dermatomyositis subsided.Discussion- Working up a child with SCD who presents with sudden onset non weight bearing can be complicated. Vaso-occlusive bony pain crisis , Osteomyelitis , septic arthritis are common clinical scenarios, but an underlying rheumatologic illness in pediatric SCD patient mimicking a sickle cell pain crisis presents a unique diagnostic challenge one which, albeit has been reported in literature, but rarely includes electron microscopic ultrastructural examination as part of evidence and work up. This patient's relatively mild muscle enzyme elevation and Hydroxyurea therapy made the initial diagnosis more challenging. We present the first pediatric SCD patient with clinically and pathologically proven case of Dermatomyositis with EM evidence, highlighting a unique clinical scenario ,diagnostic challenges and management strategies. [Display omitted] DisclosuresJain: Octapharma: Consultancy; CSL Behring: Consultancy, Speakers Bureau; GBT: Consultancy; Blue Bird Bio: Consultancy; Takeda: Consultancy, Speakers Bureau.

Pathogenesis of acute and chronic inflammatory neuropathies

Guillain-Barre syndrome (GBS) is classified into axonal and demyelinating categories. Acute motor axonal neuropathy (AMAN), an axonal subtype, was widely recognized in the 1990's. Whereas in Europe and North America, classical demyelinating GBS is the major subtype, AMAN is found for 30–80% of GBS cases in Asia. Over the past 25 years, major advances have been made in understanding the immunopathogenesis of AMAN; animal model studies have shown that there is good evidence to support an anti-GM1 antibody-mediated immune process, triggered by molecular mimicry between gangliosides of motor axons and the microorganism. Complement-mediated attack leads to disruption of nodal sodium channel clusters, and paranodal myelin detachment that is responsible for axonal dysfunction/degeneration in AMAN. CIDP is currently classified into “typical CIDP” and other variants such as “multifocal CIDP (mononeuropathy multiplex type)” and distal CIDP. Typical CIDP is a classic form, characterized by symmetric proximal and distal muscle weakness and motor-dominant manifestation. In typical CIDP, demyelination predominantly affects the distal nerve terminals and nerve roots, presumably because of the lack of the blood-nerve barrier in these regions, and this could be responsible for the “non-nerve length-dependent” distribution of muscle weakness. These findings suggest an importance of humoral immunity in typical CIDP. In contrast, multifocal CIDP is characterized by multifocal demyelination in the intermediate nerve trunks, suggesting that cellular immunity may be predominantly involved in breakdown of the blood-nerve barrier at the site of conduction block. The understanding of the pathophysiology of each CIDP subtype is important for appropriate immune-treatments.

Asymmetrical scapular winging, bilateral facial muscle involvement and distal myopathy with normal CPK; unusual features in anti JO-I positive polymyositis

Introduction Polymyositis is an idiopathic inflammatory myopathy which present with typical symmetrical proximal muscle weakness with the evidence of muscle inflammation. The acute inflammation of muscle results in high levels of CPK and has a relapsing remitting course with a good response to anti-inflammatory treatment. We present here a patient presented with a chronic myopathy with relapsing remitting fashion, with asymmetrical scapula winging, and bilateral facial weakness, with predominant distal muscle weakness which was supported by EMG.

An uncommon cause of paraparesis: Thyrotoxic hypokalemic periodic paralysis

Thyrotoxic hypokalemic periodic paralysis (THPP) is an uncommon emergency mainly affecting Asian men. Stress, infections, high carbohydrate diet, steroids, physical activity are triggers. The classic triad for diagnosis is thyrotoxicosis, hypokalemia and paralysis. The typical presentation consists of symmetrical proximal muscle weakness (with legs more affected than arms, with extensor muscle more involved than flexors), promptly solved by the correction of hypokalemia.

SY7.2. Electrophysiological features in GBS and CIDP

GBS is currently classified into axonal and demyelinating categories. Acute motor axonal neuropathy (AMAN), an axonal subtype of GBS, was widely recognized in the 1990s. Whereas in Europe and North America, acute inflammatory demyelinating polyneuropathy (AIDP) is considered the major subtype of GBS, in East Asia, and Central and South America, AMAN is found for 30–80% of GBS cases. Over the past 20 years, major advances have been made in understanding the immunopathogenesis and pathophysiology of AMAN. Clinically, AMAN is characterized by pure motor involvement, frequent antecedent Campylobacter jejuni enteritis, and serum anti-ganglioside antibodies. Electrophysiological studies frequently reveal, as well as axonal degeneration, rapidly reversible nerve conduction block/slowing (resolved within days to a few weeks); the time-course suggests functional or microstructural changes at the nodes of Ranvier. It is now established that disrupted nodal sodium channel clusters, and paranodal myelin detachment is responsible for conduction block in AMAN. CIDP is currently classified into “typical CIDP” and other variants such as “multifocal acquired demyelinating sensory and motor neuropathy (MADSAM)”. Typical CIDP is a classic form, clinically characterized by symmetric proximal and distal muscle weakness and motor- dominant manifestation. In typical CIDP, demyelination predominantly affects the distal nerve terminals and nerve roots, presumably because of the lack of the blood-nerve barrier in these regions, and this could be responsible for the “non-nerve length-dependent” distribution of muscle weakness. These findings suggest an importance of humoral immunity in typical CIDP. In contrast, MADSAM is characterized by multifocal demyelination in the intermediate nerve trunks. In MADSAM neuropathy, cellular immunity may be predominantly involved in breakdown of the blood-nerve barrier at the site of conduction block. Among the CIDP spectrum, typical CIDP and MADSAM are the major subtypes, and their pathophysiology appears to be distinct. The understanding of the pathophysiology of each CIDP subtype is important for appropriate immune treatments.

Summarized Review on Dermatomyositis: Demonstrating Modes of Diagnosis & Current Therapeutic Managements

Dermatomyositis (DM) is an autoimmune idiopathic inflammatory myopathy characterized by distinctive skin lesions, specific autoantibodies, and, most importantly, subacute symmetrical proximal muscle weakness and inflammation. Clinically amyopathic DM is a type of DM that presents with only characteristic skin lesions and no muscle disease. Heliotrope rash, erythematous rash over the face, erythematous scaly papules over the interphalangeal and metacarpophalangeal joints (Gottron's papules), erythema over the same joints (Gottron's sign), photosensitive pruritic erythema over the anterior chest and neck (V-sign), erythema extending to the shoulders and malignancy, respiratory disease, and cardiac disease are all causes of mortality and morbidity in dermatomyositis. Depending on the patient's parameters, management may include photoprotection and medications such as systemic corticosteroids, antimalarials, mycophenolate mofetil, biologicals, and IV immunoglobulins. Keywords: dermatomyositis, Gottron’s papules, heliotrope rash, inflammatory myopathy.

Arrhythmia prevalence among patients with polymyositis-dermatomyositis in the United States: An observational study.

Systemic inflammation has been associated with atherosclerotic cardiovascular diseases (ASCVD) and arrhythmia occurrence in rheumatologic conditions such as rheumatoid arthritis. Polymyositis and dermatomyositis (PD) are rare rheumatologic conditions characterized by symmetrical proximal muscle weakness and, in the case of dermatomyositis, cutaneous eruption. Although there is literature associating PD with ASCVD, no population-level studies have analyzed arrhythmia risk in PD. The purpose of this study was to assess the prevalence of arrhythmia and its subtypes by age and sex in patients with PD and to determine associations between arrhythmia and PD. This retrospective cohort study included adults for whom hospitalizations had been recorded in the National Inpatient Sample database in the United States between 2016 and 2018. Patients with PD were matched (1:10) by age to patients without PD. Prevalence of arrhythmia was calculated in the 2 groups and compared by sex and age groups. Associations between PD and arrhythmia were determined after adjustment for common arrhythmia risk factors. From 107,001,355 hospitalizations, 32,085 adults with PD were matched to 320,850 controls. Patients with PD aged <70 years had a higher prevalence of arrhythmia and higher adjusted odds of arrhythmia compared with controls. This increased risk was only seen for supraventricular arrhythmias. Adults with PD had increased odds of in-hospital mortality if they had an arrhythmia diagnosis (odds ratio 3.3; 95% confidence interval 2.5-4.5; P <.001). We found a higher prevalence and odds of arrhythmias, particularly supraventricular arrhythmias, in young and middle-aged patients with PD compared with matched controls. Arrhythmias were associated with significant mortality among patients with PD.

NanoString technology distinguishes anti-TIF-1γ+ from anti-Mi-2+ dermatomyositis patients.

Dermatomyositis (DM) is a systemic idiopathic inflammatory disease affecting skeletal muscle and skin, clinically characterized by symmetrical proximal muscle weakness and typical skin lesions. Recently, myositis‐specific autoantibodies (MSA) became of utmost importance because they strongly correlate with distinct clinical manifestations and prognosis. Antibodies against transcription intermediary factor 1γ (TIF‐1γ) are frequently associated with increased risk of malignancy, a specific cutaneous phenotype and limited response to therapy in adult DM patients. Anti‐Mi‐2 autoantibodies, in contrast, are typically associated with classic DM rashes, prominent skeletal muscle weakness, better therapeutic response and prognosis, and less frequently with cancer. Nevertheless, the sensitivity of autoantibody testing is only moderate, and alternative reliable methods for DM patient stratification and prediction of cancer risk are needed. To further investigate these clinically distinct DM subgroups, we herein analyzed 30 DM patients (n = 15 Mi‐2+ and n = 15 TIF‐1 γ+) and n = 8 non‐disease controls (NDC). We demonstrate that the NanoString technology can be used as a very sensitive method to clearly differentiate these two clinically distinct DM subgroups. Using the nCounter PanCancer Immune Profiling Panel™, we identified a set of significantly dysregulated genes in anti‐TIF‐1γ+ patient muscle biopsies including VEGFA, DDX58, IFNB1, CCL5, IL12RB2, and CD84. Investigation of type I IFN‐regulated transcripts revealed a striking type I interferon signature in anti‐Mi‐2+ patient biopsies. Our results help to stratify both subgroups and predict, which DM patients require an intensified diagnostic procedure and might have a poorer outcome. Potentially, this could also have implications for the therapeutic approach.