Delayed diagnosis of dermatomyositis: a case report

Case report - Introduction This is a case of a female patient who was diagnosed with dermatomyositis with anti-Small ubiquitin-like modifier Activating Enzyme-1 (SAE-1) and anti-Ro52 autoantibodies. She had extensive skin involvement with mild extracutaneous features and responded well to a combination of prednisolone, hydroxychloroquine and azathioprine. She subsequently developed primary mediastinal large B-cell lymphoma about 3 years after diagnosis of dermatomyositis. Case report - Case description A 59-year-old Caucasian female presented in January 2018 to the dermatologist with a 6-month history of itchy, dry, flaky skin around her eyes with periorbital erythema which later progressed to fixed periorbital oedema. At that point, a diagnostic biopsy was taken from the left lower eyelid which showed a deep inflammatory infiltrate with significant oedema and dilated blood vessels. A few weeks later, she developed a widespread erythematous rash. Other than some cramps and myalgia in the thighs, there was no muscle weakness or dysphagia. There were no red flag symptoms, but some dry cough without dyspnoea. Clinical examination revealed periungual erythema, periorbital erythema and oedema, widespread erythematous eruption on the torso and limbs and papular eruptions on the hand dorsum. Muscle power in upper and lower limbs scored 5 in the MRC scale. Blood tests showed slight lymphopaenia, antinuclear antibodies titre 1:400, dsDNA and ENA negative, raised IgG kappa monoclonal protein at 10g/L with normal kappa/lambda ratio, creatine kinase initially 93 that later rose to 209, slightly raised lactate dehydrogenase 262, otherwise unremarkable biochemistry and inflammatory markers. Extended myositis screen with immunoblot revealed positive SAE-1 and anti-Ro52 autoantibodies. MRI of the femurs showed mild oedema in the adductors. Electromyogram showed some myopathic motor units, not florid but convincingly present. Computed tomography of neck, thorax, abdomen and pelvis did not reveal any underlying malignancy at the time. The diagnosis of SAE-1-positive dermatomyositis was made and she was treated with high-dose prednisolone (1mg/kg), azathioprine and hydroxychloroquine with good response and dermatomyositis went into remission. In December 2020, she developed dyspnoea and was found to have left-sided pleural effusion and anterior mediastinal mass, a biopsy of which confirmed primary mediastinal large B-cell lymphoma. She is currently receiving chemotherapy with rituximab-cyclophosphamide-doxorubicin-vincristine-prednisolone and azathioprine was discontinued. Her dermatomyositis remains in remission. Case report - Discussion The SAE-1 autoantibody was first identified in 2007. Its prevalence ranges from 1% to 8% in different cohorts. The main clinical feature of anti-SAE-1-positive disease tends to be a widespread cutaneous involvement which is typically pruritic, either amyopathic or associated with mild muscle involvement. Other extracutaneous manifestations include arthralgia, dysphagia and interstitial lung disease (ILD) with variable frequency in different cohorts. ILD is usually milder than in other amyopathic dermatomyositis subgroups. Our patient presented with rather extensive cutaneous disease (clinical photography available) requiring high-dose prednisolone and we decided to add azathioprine as a steroid-sparing agent. She had minimal muscle disease and no other extracutaneous manifestations. Interestingly, she developed lymphoma 3 years following the diagnosis of dermatomyositis. The association between dermatomyositis and malignancy is well-established. The generally accepted definition of cancer-associated myositis is malignancy within 3 years of disease onset. Dermatomyositis as opposed to polymyositis, increasing age, male sex, dysphagia, cutaneous ulceration and the presence of anti-transcription intermediary factor-1 gamma antibodies (TIF1γ) were all associated with increased cancer risk in a recent meta-analysis by Oldroyd et al. Anti-SAE-1 is variably reported to be associated with cancers. A recently published study of a North American cohort of anti-SAE-1-positive dermatomyositis patients reported five cases of cancers, mainly internal malignancies and one case of B-cell lymphoproliferative disorder. We are not aware of any more reported cases of lymphoma in patients with anti-SAE-1 autoantibodies. A 2018 study did report two cases of dermatomyositis patients who developed lymphoma without specifying the autoantibody profile in those patients. Our case contributes to the fact that dermatomyositis can be associated with malignancies. It also raises awareness that this rare subgroup of dermatomyositis with SAE-1 autoantibodies can be associated with lymphoma. However, this association has not been widely reported in the literature. Case report - Key learning points

Ragged cuticles and erythematous hands and feet in a pediatric patient with chronic diarrhea

Dermatomyositis is an idiopathic inflammatory myopathy with characteristic cutaneous changes. The disease belongs to paraneoplastic dermatosis. Association of dermatomyositis with malignant conditions has been described in various studies. We present a patient with paraneoplastic dermatomyositis associated with metastatic rectal adenocarcinoma. A 66-year-old man was hospitalized in our Institute due to skin changes and myopathy in October 2006. According to the medical documents and history, he underwent surgery because of rectal adenocarcinoma in April 2006. Skin changes appeared 5 months before, while aggravation occurred 6 months after the surgery. The diagnosis of dermatomyositis was based on: characteristic clinical picture; the elevated serum level of following enzymes: creatinine kinase, lactate dehydrogenase; the presence of anti-Mi 2 antibodies in serum; electromyographic finding; and by histology of the muscle biopsy. Paraneoplastic nature of dermatomyositis was confirmed by computer tomography of the abdomen which revealed multiple deposits in the liver, by explorative laparotomy showing peritoneal dissemination and histopathological analysis that verified metastatic adenocarcinoma of the rectum. The oncological consulting team suggested chemotherapy which was not carried out because of the rapid lethal outcome. We report a case of paraneoplastic dermatomyositis associated with metastatic rectal adenocarcinoma and lethal outcome, and suggest a comprehensive evaluation of patients with dermatomyositis older than 50 years in order to exclude or verify the occult malignancy.

Dermatomyositis: A Rare Initial Presentation of Adenocarcinoma of the Prostate

In adults, there is an established correlation between dermatomyositis (DM) and malignancy1, but in children there are very few case reports in the literature. Here we report 2 cases from our institution of development of leukemia after diagnosis of juvenile DM (JDM).

Dermatomyositis (DM) is a rare inflammatory autoimmune disease for which an iatrogenic origin has been described in a few cases. The authors report a case of DM occurring after simvastatin...

Background: Dermatomyositis (DM) is an autoimmune disease characterized by cutaneous Gottron papules, heliotrope rash, and proximal myopathy. It may also present as a paraneoplastic syndrome that can complicate a variety of different cancers, such as lung, cervical, and breast cancer. However, the association with hepatocellular carcinoma (HCC) is extremely rare. Moreover, to our knowledge, there are no previous reports of colonic perforation following steroid pulse treatment for a DM patient. Case Summary: A 61-year-old male complained of a skin rash that began in his neck and spread to his face and abdomen. On physical examination, the patient was also found to have symmetrical proximal muscle weakness, abdominal pain, heliotrope rash in the periorbital skin, and poikiloderma on his face and abdomen. Serum level of muscle enzymes was remarkably increased. Muscle examination revealed symmetrical proximal weakness. The diagnosis of DM was made, and steroid treatment was started for symptomatic relief. A search for causative malignancy revealed HCC. Despite steroid therapy for DM, his symptoms did not improve. Additionally, C-reactive protein elevation was seen along with severe abdominal pain on day 14 of admission. Shortly after this, the patient died of septic shock due to suppurative peritonitis after perforation of the ascending colon. Conclusion: Here, we present a rare case of DM caused by non-hepatitis-associated advanced HCC with colonic perforation. The cause of colonic perforation is still unclear. This case demonstrates the need to carefully monitor abdominal pain in DM patients as symptoms can be masked by steroid therapy.

Comments and Corrections1 June 1976Dermatomyositis and MalignancyJEFFREY P. CALLEN, M.D., JOSEPH J. CHANDA, M.D., MAREK A. STAWISKI, M.D.JEFFREY P. CALLEN, M.D.Search for more papers by this author, JOSEPH J. CHANDA, M.D.Search for more papers by this author, MAREK A. STAWISKI, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-84-6-751_2 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: In "Dermatomyositis and Malignancy" (Ann Intern Med84:68-76, 1976), Barnes has thoroughly reviewed the pertinent literature. She concludes from this review that the incidence of malignancy in dermatomyositis is increased; the tumors associated with dermatomyositis are overrepresented by ovarian and stomach cancers and underrepresented by colorectal cancers; and in some cases tumor therapy, steroids, or immunosuppressives may lead to improvement in the myopathy. We have reservations about these conclusions for these reasons. First, the literature reviewed contains many case reports and series in which the diagnosis of dermatomyositis has not been established on the basis of specific... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Dermatology The University of Michigan Ann Arbor, MI 48104 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByDermatomyositis and Nasopharyngeal CarcinomaAdult polyomyositis/dermatomyositis associated with acute myeloid leukemia. A case reportDermatomyositis, Carcinoma of Colon and Meningioma in the Same PatientFulminant Dermatomyositis after Removal of a CancerDermatomyositis and MalignancyMalignancy in polymyositis/ dermatomyositisDERMATOMYOSITIS 1 June 1976Volume 84, Issue 6Page: 751-752KeywordsCancer immunotherapyCase seriesColorectal cancerDermatomyositisImmunosuppressivesOvarian cancerSteroid therapySteroidsStomach Issue Published: 1 June 1976 PDF DownloadLoading ...

BackgroundDermatomyositis with positive anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody has a distinct phenotype associated with small hand joint arthritis, mucocutaneous ulceration, palmar papules and less muscle involvement. It is also associated with increased risk of rapidly progressive interstitial lung disease (RP-ILD) and has a high mortality rate in adults. There is evidence that cases complicated with spontaneous pneumomediastinum (PNM) have an increase in mortality. While most of the evidence for this rare disease is derived from the adult literature, we report a case diagnosed in an adolescent complicated with both RP-ILD and PNM with a good outcome after aggressive immunosuppressive therapy. Our case also illustrates the potential challenges in diagnosis of this condition in the setting of non-specific clinical manifestations, the need for a high index of suspicion, and the importance of testing for myositis-specific antibodies (MSA) early to aid in diagnosis given the risk of rapid progression in these patients.Case presentationA 16-year-old Chinese female presented with fever and cough for 1 day, and finger swelling for 3 weeks. Physical examination revealed arthritis of fingers and wrists, ulcers and palmar papules over fingers, hyperpigmentation of interphalangeal joints, and rash over the neck. The diagnosis of dermatomyositis was made 1 month later with the onset of malar rash, Gottron’s papules, calcinosis and myalgia. The diagnosis was supported by the presence of anti-MDA5 antibody and evidence of inflammatory myopathy on magnetic resonance imaging. In retrospect, she already had interstitial lung disease at first presentation manifested as cough and opacity on chest radiograph, which was later confirmed with chest computed tomography. She was treated according to adult guidelines with steroid and calcineurin inhibitor. Her disease was resistant to initial therapy and was complicated by RP-ILD and spontaneous PNM. Intensive immunosuppressive therapy including cyclophosphamide and rituximab were required to induce remission.ConclusionsRecognition of distinct clinical features of anti-MDA5 antibody-positive dermatomyositis and testing for MSA is crucial in patients with skin ulceration and abnormal pulmonary findings of unknown etiology, as prompt diagnosis with early aggressive treatment and anticipation of complications could make a difference in the outcome of this disease with high mortality.

BackgroundIn literature it has been reported in 1998, for the first time, a case of a 54-year-old man who developed constrictive pericarditis (CP) 12 years after diagnosis of dermatomyositis (DM). To our knowledge, this may be the only case reported.Case summaryA 16-year-old man presented to our institution because of symptoms posing a suspicion for an inflammatory disease; after physical examination, lab tests, and other investigations (electromyography, magnetic resonance, and muscular biopsy) was diagnosed as having DM. Patient also showed hepatomegaly and congested jugular veins: after clinical and imaging investigations (transthoracic echocardiography and transoesophageal echocardiography) he was diagnosed as having a CP. Patient underwent pericardial resection and the final outcome consisted of a completely regression of the symptoms.DiscussionCardiac involvement in patients with DM ranges between 6% and 75%, and it can be clinically manifest or, far more frequently, sub-clinic. Pericardial involvement as a complication of DM is widely reported in the literature, but in almost all cases as acute pericarditis, effusive pericarditis or cardiac tamponade and almost never as a CP.

BackgroundDermatomyositis is a rare idiopathic inflammatory myopathy characterized by distinct cutaneous manifestations and progressive proximal muscle weakness. However, in areas with limited diagnostic tools without a high index of suspicion, early identification is often challenging, increasing the risk of complications.Case presentationWe report the case of a 50-year-old Ethiopian woman who presented with progressive difficulty swallowing, proximal muscle weakness, and characteristic dermatologic manifestations. Despite multiple emergency visits and extensive workups, such as chest computed tomography and barium swallow, the diagnosis was delayed. Key findings included elevated muscle enzymes and low serum albumin, and a muscle biopsy revealed muscle fiber atrophy. The diagnosis of dermatomyositis was confirmed by the American College of Rheumatology–European League Against Rheumatism classification criteria.ManagementWe treated the patient with high-dose prednisolone and methotrexate as a steroid-sparing agent, along with nutritional support. Her muscle strength and dysphagia significantly improved within weeks of therapy initiation.ConclusionOur goal is to emphasize the importance of early recognition of dermatomyositis, especially in resource-limited settings, to avoid unnecessary, financially debilitating workups and prevent complications such as malnutrition, which are completely avoidable with early detection.

Dermatomyositis represents a rare autoimmune disorder characterized by the concurrent presentation of inflammatory myopathy and distinctive cutaneous manifestations. Herein, we present a comprehensive case report involving a 62-year-old male patient exhibiting a complex array of symptoms encompassing progressive muscle weakness, characteristic dermatological findings, and systemic involvement. This case report serves to illuminate the diagnostic intricacies inherent to dermatomyositis and underscore the imperative for a multidisciplinary approach to its effective management.The clinical presentation of the patient featured hallmark signs such as the classic heliotrope rash, Gottron's papules, and proximal muscle weakness, all indicative of dermatomyositis. Laboratory investigations revealed elevated muscle enzyme levels and the presence of positive autoantibodies, thereby reinforcing the diagnostic framework. Imaging modalities substantiated muscular involvement, while electromyography provided definitive evidence of myopathic alterations. Notably, a muscle biopsy further corroborated the diagnostic findings. In response to these diagnostic cues, the patient was expeditiously initiated on a therapeutic regimen encompassing corticosteroids, immunosuppressants, calcium channel blockers, and a tailored physical therapy program.This case underscores the pivotal significance of timely recognition and intervention for the treatment of dermatomyositis, thus mitigating the risk of long-term complications and enhancing the patient's overall quality of life. Moreover, it highlights the indispensability of interdisciplinary collaboration, uniting the expertise of dermatologists, rheumatologists, and neurologists, in navigating the intricacies of this intricate autoimmune disorder. We emphasize the pressing need for a comprehensive evaluation and an individualized therapeutic approach, thereby amplifying the prospects for superior patient outcomes and an improved quality of life.

Macrophage activation syndrome (MAS) can be a fatal complication of rheumatic disorders, which occurs most commonly in patients with systemic juvenile idiopathic arthritis or systemic lupus erythematosus. It has rarely been reported in patients with dermatomyositis. Here, we describe a fatal case of MAS that developed in an adult patient with dermatomyositis. A 44-year-old woman was admitted to our hospital with fever, generalized rash and muscle weakness. Fifteen days later, the fever persisted after the use of antibiotics, and repeat blood culture was negative. The patient then exhibited a typical Gottron sign and diffuse erythema on the face and neck, which were consistent with a diagnosis of dermatomyositis. The patient exhibited limb muscle strength of 2, and electromyography was suggestive of muscle-derived damage, which also supported a diagnosis of dermatomyositis. In addition, the patient exhibited high serum ferritin level, cytopenia, liver dysfunction, coagulopathy, enlarged spleen and hypertriglyceridemia, all of which are typical manifestations of MAS. The patient was diagnosed with dermatomyositis complicated by MAS. Although a high dose of methylprednisolone was administered for 15 d, the patient's condition continued to deteriorate and central nervous system symptoms developed. Eventually, treatment was discontinued, and the patient died. MAS is an important, potentially fatal, complication of dermatomyositis. Although MAS is rare in dermatomyositis, it should be considered in the differential diagnosis of an unexplained change of hemoglobin, platelet, fibrinogen, ferritin and triglyceride, which may complicate dermatomyositis.

Azathioprine is widely used as a steroid-sparing agent for autoimmune disease or renal disease. Pure red blood cell aplasia has been considered to be a rare, but direct adverse effect of azathioprine. We describe a 12-year-old girl who developed pure red blood cell aplasia during azathioprine therapy which might have been induced by occult and persistent parvovirus B19 infection. Case report. First admission. A 12-year-old girl (140 cm, 30 kg) was admitted to our hospital because of persistent spiking fever, myalgia, muscle weakness, joint swelling and mild dyspnea. The diagnosis of dermatomyositis was supported by an elevated serum creatine kinase (>20,000 IU/l) and by the typical pathologic findings in biopsy specimens obtained from her skin and muscle. She also had positive antinuclear antibody, pleural effusion, oral ulcers, proteinuria and arthritis, which met the American Rheumatic Association criteria of systemic lupus erythematosus (SLE). Thus she was diagnosed as an overlap syndrome consisting of SLE and dermatomyositis. Methylprednisolone pulse therapy was started for 3 consecutive days, and clinical remission was achieved and maintained and followed by 4 weeks of oral prednisolone therapy (60 mg/day). Prednisolone dosage was then gradually tapered from 60 to 20 mg/day. She was discharged in remission 130 days after admission. Second admission(Fig. 1). She was readmitted to our hospital 3 weeks after discharge because of fever, joint swelling and ankle edema. In addition to methylprednisolone pulse therapy and subsequent prednisolone therapy (40 mg), azathioprine (1 mg/kg/day) and methotrexate (5 mg/week) were also prescribed as steroid-sparing agents from the second hospital day. Although the fever and arthritis gradually subsided, she developed various complications associated with steroid therapy: osteoporosis; skin atrophy; cataracts; hypokalemia; hypertension; central obesity; and diabetes mellitus. Prednisolone was gradually tapered from 40 to 25 mg/day, and the dosage of azathioprine was increased to 2 mg/kg/day. From the 70th hospital day normocytic anemia gradually progressed without clinical relapse of the disease. Hemoglobin decreased to 6.8 g/dl and reticulocytes disappeared on Day 79. White blood cell and platelet counts did not decrease. Serum erythropoietin was markedly increased (1430 milliunits/ml). Bone marrow aspiration performed on Day 80 revealed severe erythroid hypoplasia showing marked elevation of the myeloid to erythroid cell ratio (24:1). Because azathioprine appeared to be a causative agent of anemia according to previous reports,1 cyclosporine A was substituted for azathioprine from Day 81. Nine days later the reticulocyte count increased to 5.4%, and reexamination of bone marrow showed erythroid hyperplasia. Hemoglobin gradually recovered and reached 10.2 g/dl on Day 128 without blood transfusion.Fig. 1: Patient's course. Ret., reticulocyte count; methylprednisolone infusion of 1 g/m2 for consecutive 3 days; CyA, cyclosporine A; WBC, white blood cell count; PLT, platelet count; Hb, hemoglobin; MCV, mean corpuscular volume; EIA, enzyme immunoassay; Parvo, parvovirus.To address possible participation of parvovirus B19 in this episode, parvovirus B19 DNA was examined and identified by PCR in sera on the 79th and the 104th hospital days. Virus-specific IgM antibody was also demonstrated from the sera on both days. Although persistent parvovirus B19 infection was documented by PCR performed on Days 210 and 282, severe anemia recovered spontaneously after the discontinuance of azathioprine. We restarted azathioprine (1 mg/kg) on Day 500 to control symptoms of the disease that reappeared after discontinuance of azathioprine, after the confirmation of negative virus DNA on Day 447. Normal hemoglobin concentrations were maintained for more than 6 months after readminstration of azathioprine. Discussion. Azathioprine has been widely used not only as a steroid-sparing agent for the treatment of dermatomyositis, SLE or renal disease but also as an immunosuppressive agent after organ transplantation. Mild to moderate leukopenia is a common side effect during long term therapy. Development of anemia is rare, but usually severe and prolonged1-4 (pure red blood cell aplasia). Withdrawal or substitution to an alternative immunosuppressive drug is required for recovery of anemia.1 Parvovirus B19 infection has marked tropism for human erythroid progenitor cells.5, 6 In normal individuals inhibition of erythropoiesis induced by parvovirus B19 is transient and is spontaneously restored without development of anemia. However, it can cause severe anemia in immunocompromised individuals such as bone marrow or renal transplant recipients, presumably because of prolonged inhibition of erythropoiesis,4 and in those with hematologic disorders characterized by accelerated red blood cell turnover such as chronic hemolytic anemia7 in whom even a transient inhibition of erythropoiesis is critical (aplastic crisis). The parvovirus B19 infection persisted at least 6 months after the anemic episode in this case. Similar persistent parvovirus infection that induced severe anemia has been reported in a patient with immunodeficiency who could not produce enough virus-specific IgG.8 In that case the patient recovered from anemia after receiving a commercial immunoglobulin preparation containing virus-neutralizing antibody. The anemia observed in our case recovered spontaneously by withdrawal of azathioprine in spite of persistent parvovirus B19 infection. Moreover anemia did not recur after readministration of azathioprine given after disappearance of the virus from the serum. In individuals who can produce virusspecific antibody, even though it is not a neutralizing antibody, azathioprine and parvovirus B19 may synergistically induce persistent and profound suppression of erythropoiesis. It is speculated that this type of pure red blood cell aplasia may be cured without discontinuance of effective azathioprine therapy if immunoglobulin is administered.4, 8, 9 Finally careful observation is required keeping in mind that reinfection or reactivation of virus might induce anemia again, because virus-specific IgM and IgG become undetectable. In summary we report a case in which parvovirus B19 infection probably induced pure red blood cell aplasia during azathioprine therapy. We postulate that most reported cases of pure red blood cell aplasia that have developed during the long term azathioprine therapy might be associated with parvovirus B19 infection, but not be directly induced by azathioprine. Kosuke Higashida, M.D. Kisho Kobayashi, M.D. Kanji Sugita, M.D. Naoko Karakida, M.D. Yoshiko Nakagomi, M.D. Emi Sawanobori, M.D. Yoshimi Sata, M.D. Masao Aihara, M.D. Shin Amemiya, M.D. Shinpei Nakazawa, M.D. Department of Pediatrics; Yamanashi Medical University; Yamanashi, Japan

The association of dermatomyositis with malignant disease has been established, but the relationship between dermatomyositis and recurrence or metastasis of neoplasm remains unclear. In Taiwan, nasopharyngeal cancer is the most common malignancy associated with dermatomyositis while gastric cancer-associated dermatomyositis is rarely reported. We present a case of a 70-year-old male who had a past history of gastric adenocarcinoma and underwent subtotal gastrectomy 2 years ago. The diagnosis of dermatomyositis was made due to painful swelling of the bilateral upper arms, malar rashes, symmetric proximal weakness and dysphagia. In addition, a newlydiscovered liver mass was found to be metastasis from gastric cancer. Gastric cancer-associated dermatomyositis is rarely reported, and this case can serve as a reminder to physicians that the development of dermatomyositis in patients with cancer history may imply the potential hazard of recurrent or metastatic malignancy.