JournalTOCs

Case Reports in Rheumatology
Number of Followers: 10

This is an Open Access Journal

Open Access journal
ISSN (Print) 2090-6889 - ISSN (Online) 2090-6897
Published by Hindawi

[339 journals]

An Unusual Cause of Necrotising Fasciitis in a Young Male with Juvenile
Dermatomyositis
- Abstract: Juvenile dermatomyositis (JDM) is a rare condition worldwide, affecting children younger than 16 years. It is characterized by weakness in the proximal skeletal muscles and a pathognomonic skin rash. Patients with JDM develop complications that are usually a consequence of vasculopathy affecting multiple organ systems. Occult gastrointestinal (GI) perforation is an uncommon complication and is associated with an increased risk of mortality due to a delay in diagnosis. We report on a 14-year-old male with JDM with an aggressive course over two years and severe clinical manifestations. The patient developed necrotizing fasciitis, an unusual rapidly progressing lethal infection of the fascia resulting from bowel contents seeping from multiple intestinal perforations. This case, less commonly seen in males, highlights the occurrence of multiple phenomena—JDM complicated by skin and gastrointestinal vasculopathy with resultant development of multiple GI perforations and consequently life-threatening necrotizing fasciitis of the leg. Physicians need a high index of suspecting GI perforation in JDM patients as the delayed recognition of this complication can result in significant morbidity and/or mortality since the typical symptoms of perforation may be absent.
  PubDate: Tue, 09 Aug 2022 07:35:00 +000
Kikuchi-Fujimoto Disease: A Differential for When It is Not Systemic Lupus
Erythematosus
- Abstract: Kikuchi-Fujimoto disease (KFD) is a rare and benign disease process that is characterized by fever and lymphadenopathy that was first described in young Japanese women in the early 1970s. Knowledge of KFD is important as it can often mimic other causes of lymphadenopathy including systemic lupus erythematosus (SLE) or malignancies, and this can lead to invasive diagnostic testing and even treatments that can be avoided. The etiology and exact mechanism by which KFD develops is not fully understood at this time, but is thought to be an immune response of T cells and histiocytes to viral or bacterial infections. We present a 35-year-old African-American woman who was referred to the rheumatology clinic by our colleagues in the breast clinic with new onset right axillary lymphadenopathy and abnormal serologic testing with the suspicion of SLE after a malignancy had been ruled out.
  PubDate: Tue, 09 Aug 2022 02:35:03 +000
A Case of Severe Multisystem Inflammatory Syndrome in Children (MIS-C)
Treated with Multiple Biologics
- Abstract: The COVID-19 virus has impacted global health on a wide scale, affecting humans of all ages and ethnicities. While most have mild upper respiratory viral symptoms, some have died due to severe pneumonia, acute respiratory distress syndrome (ARDS), or coagulopathies to mention a few. It has been postulated that the COVID-19 virus can initiate an autoinflammatory reaction in the body via multiple pathways of cytokine activation. The virus can cause delayed response after 4–8 weeks of acute infection, which resembles a cytokine storm or MAS (macrophage activation syndrome). This highly inflammatory syndrome, called MIS-C or multisystem inflammatory response syndrome, needs to be diagnosed and treated early to prevent multiorgan damage and mortality. There are widespread lab abnormalities including highly elevated acute phase reactants ferritin, D-Dimer, lactate dehydrogenase (LDH), creatinine kinase (CK), sedimentation rate (ESR), and C-reactive protein (CRP) as well as markers of cardiac damage including troponin and brain natriuretic peptide (BNP). The syndrome can present in unique ways from classic MIS-C with hypovolemic shock to Kawasaki disease-like presentation. We present a case of a 12-year-old boy who presented to Le Bonheur Children’s Hospital in Memphis with classic signs and symptoms of “severe” MIS-C requiring intubation, multiple pressors, ECMO, and renal replacement therapy. He was treated successfully with immunomodulating medicines including intravenous immune globulin (IVIG), steroids, interleukin-6 inhibitor, tumor necrosis factor-a inhibitor, interleukin-1 inhibitor, and Janus kinase inhibitor.
  PubDate: Mon, 08 Aug 2022 22:50:04 +000
Hypertrophic Osteoarthropathy Associated with Probable Smear-Negative
Pulmonary Tuberculosis
- Abstract: Association of hypertrophic osteoarthropathy (HOA) with pulmonary tuberculosis is rarely reported, especially with smear-negative pulmonary tuberculosis (SNPT), in which its diagnosis is a challenge. We used a systematic approach to analyze all relevant literature reviews, and we identified only two cases of HOA associated with pulmonary tuberculosis in the last 10 years. We report the case of a 36-year-old man who presented with bilateral symmetric polyarthralgia and digital clubbing. Laboratory exams associated elevated acute phase reactants with negative immunological examinations. Two series of three acid-fast Bacillus (AFB) smear microscopy in sputum, separated by 15 days of broad-spectrum antibiotic therapy, were negative. A sputum culture was negative for Mycobacterium tuberculosis. A chest X-ray and computed tomography (CT) showed an apical pulmonary cavity. Plain X-ray and bone scintigraphy revealed periostosis of the tubular bones. Therefore, the diagnosis of HOA associated with probable SNPT was made. HOA symptoms had remitted after 3 months of antitubercular therapy. After 7 months of treatment, chest CT and bone scintigraphy showed a regression of the pulmonary cavity and disappearance of periostosis. The search for tuberculosis in front of any HOA seems to be justified in our epidemiological context.
  PubDate: Fri, 05 Aug 2022 10:50:00 +000
Chronic Infection with Hidden Malignancy Mimicking the Clinical
Presentation of an Autoimmune Disease
- Abstract: Infections of the paranasal sinuses are common and usually occur in patients who are immunocompromised. Many atypical clinical presentations have been reported but rarely in the elderly population. We report a 71-year-old female patient with a 20-year history of an autoimmune disease who had recently become resistant to treatment. Her autoimmune symptoms significantly improved following resection of deeply seated bacterial infection in her paranasal sinuses. She was also diagnosed with cervical cancer. Clinicians should look carefully for hidden infections and/or malignancies in patients lacking response while on immunosuppressive therapy for autoimmune disease.
  PubDate: Mon, 18 Jul 2022 09:50:04 +000
Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition
- Abstract: Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.
  PubDate: Sat, 16 Jul 2022 01:50:00 +000
Hydroxychloroquine and Fabry Disease: Three Case Reports Examining an
Unexpected Pathologic Link and a Review of the Literature
- Abstract: Background. Hydroxychloroquine is an effective and widely used treatment in multiple autoimmune connective tissue diseases that gained a lot of publicity in the coronavirus disease 2019 (COVID-19) pandemic. Our case reports are unique in that they explore the rare and sometimes overlooked effects of this drug on multiple organ systems, specifically the kidney, cardiac muscle, and skeletal muscle. We include key histologic features in images which aid in identifying and distinguishing hydroxychloroquine toxicity from mimickers. Lastly, we report the very interesting similarity in the intracellular action of hydroxychloroquine to the pathology of Fabry disease (and its associated lysosomal enzyme, α-galactosidase A). Case Presentation. We will examine the case presentations of three female Caucasian patients: a 22-year-old with lupus nephritis class V, a 72-year-old with long-standing systemic lupus erythematosus, and a 74-year-old with undifferentiated connective tissue disease. All three patients were on hydroxychloroquine therapy for varying amounts of time with histologic evidence of hydroxychloroquine toxicity that is three is present in histological samples of the kidney, the heart, and the skeletal muscle. Conclusions. Hydroxychloroquine is a very important and beneficial medication used for various autoimmune connective tissue diseases. Clinicians should be aware of the rare but sometimes serious side effects that can result from the medication, which at times can mimic manifestations of the connective tissue disease itself or Fabry disease. A thorough investigation should be performed in these cases to properly elucidate the cause followed by the appropriate targeted therapy.
  PubDate: Mon, 11 Jul 2022 15:05:00 +000
Massive Intestinal Bleeding in an Adult with IgA Vasculitis Treated with
Intravenous Immunoglobulin
- Abstract: We report the case of a 29-year-old adult presenting with severe IgA vasculitis, with cutaneous, urologic, and renal manifestations. The late appearance of severe gastrointestinal bleeding dominated the clinical picture, necessitating the administration of tens of units of packed cells and the augmentation of the immunosuppressive protocol. It was not until therapy with intravenous immunoglobulin (IVIG) was introduced that the massive bleeding was controlled. We herein discuss the patient’s presentation, the gastrointestinal manifestations of IgA vasculitis, the recommended treatments, and the existent evidence about IVIG therapy.
  PubDate: Tue, 14 Jun 2022 10:50:00 +000
A Case of Anti-Jo-1 Myositis with Unique Biopsy Findings
- Abstract: Antisynthetase syndrome (ASS) or anti-Jo-1 antibody syndrome has a classic clinical presentation including arthritis, myositis, interstitial lung disease, mechanic hands, and/or Raynaud’s phenomenon. The biopsy findings are distinctive from polymyositis or dermatomyositis. We describe an interesting case of ASS where a patient presented with significant muscle weakness, proteinuria, and interstitial lung disease. She also had positive Ro-52 antibodies in addition to anti-Jo-1 antibodies. Her biopsy findings were consistent with inflammatory necrotizing myositis.
  PubDate: Mon, 06 Jun 2022 10:20:00 +000
Tophaceous Gout in the Pancreas: Case Reports and Review of the Literature
- Abstract: We report 3 patients who presented with abnormal pancreatic contents that were initially nondiagnostic but were eventually found to have urate crystal deposition consistent with pancreatic tophaceous gout. Our first case involved an ICU patient who had fever of unknown origin and refractory pancreatic pseudocyst. The other 2 patients presented with abdominal pain associated with a pancreatic mass which mimicked malignancy. After further investigation, we were able to identify pancreatic tophaceous gout as the diagnosis. Initiation of therapy led to resolution of pancreatitis in the first patient and resolution of abdominal pain and decrease in size of a pancreatic mass in the other 2 patients. The recognition of clinical gout involving the pancreas has important implications in the evaluation and care of these patients who are at high risk for tophaceous gout. In addition, the importance of specimen preparation that preserves crystals for viewing is discussed.
  PubDate: Fri, 03 Jun 2022 11:35:00 +000
A Case Report of Statin-Induced Immune-Mediated Necrotizing Myopathy
Treatment Challenges
- Abstract: Statin-induced necrotizing autoimmune myopathy is an immune-mediated necrotizing myopathy related to the use of statins. It is a very rare disease, which usually presents with proximal muscle weakness and frank elevation in creatine kinase levels. Stopping statin and the use of immunosuppressive therapy are considered the mainstay therapy. Use of steroids in patients with inflammatory myopathy can be complicated by steroid-induced myopathy. Herein, we present a case of a 55-year-old patient with statin-induced necrotizing autoimmune myopathy based on the presence of proximal muscle weakness, magnetic resonance findings, suggestive muscle biopsy features, and positive anti-HMGCR autoantibodies. The patient was treated with triple immunosuppressive therapy with a particularly good response to intravenous immunoglobulin. This report highlights the importance of timely diagnosis and early use of combined immunosuppressive therapy to improve patients’ outcome affected by this rare disease.
  PubDate: Tue, 31 May 2022 06:50:00 +000
Concurrence of Rheumatoid Arthritis and Ankylosing Spondylitis: Analysis
of Seven Cases and Literature Review
- Abstract: Introduction. The association of rheumatoid arthritis (RA) and ankylosing spondylitis (AS) in a single patient is a rarely described phenomenon. AS and RA are conditions that can have a high impact on the morbidity and mortality of patients. Methods. We described the clinical, epidemiological, analytical, and radiological characteristics of 81 patients with concomitant diagnosis of rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Of these patients, seven were diagnosed at our hospital. A literature review was carried out using Medline, Embase, Scopus, and virtual hospital libraries, including the period from January 1950 to April 2020. Results. Regarding the results, 71% of the patients were men, with a mean age of 53 years (±14.83). RA was the first disease diagnosed in 52% of the cases. Approximately 53% of the patients had rheumatoid nodules, and 83% reported inflammatory lumbar pain during their evaluation. Erosions were observed on radiographs of the hands and/or feet in 85% of the cases, and almost all the patients (80/81) had sacroiliitis on imaging studies. Approximately 92% of the cases were rheumatoid factor (RF) positive and 90% HLA B-27 positive. Conclusions. The coexistence of RA and AS is highly uncommon. With the data obtained in this review, it seems that there exist erosive radiological patterns, positivity for RF, involvement of the axial skeleton, and rheumatoid nodules at a higher frequency than those patients with a single diagnosis of the two entities. More data are needed to corroborate this association.
  PubDate: Sat, 28 May 2022 09:05:00 +000
Three’s Company: Coexistence of Silicosis, Scleroderma, and Sjogren
Syndrome in a Single Patient
- Abstract: We describe a patient who presented with silicosis, scleroderma, and Sjogren syndrome all at the same time. The diagnoses in this case are all associated with continuous exposure to crystalline silica at the patient’s workplace. The following report discusses this unique presentation.
  PubDate: Fri, 27 May 2022 12:50:01 +000
Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa
- Abstract: Polyarteritis nodosa (PAN) is a rare systemic vasculitis that affects small to medium-sized arteries. It could affect any organ including the heart. However coronary artery involvements are very rare. We describe a young girl who presented following a histopathological diagnosis of PAN with acute chest pain, high serum troponin, and progressive ischemic changes in the electrocardiogram (ECG). Induction of remission of her disease was done with six-moths Cyclophosphamide infusions and pulse corticosteroids. In addition to anticoagulation and dual antithrombotic therapy, the disease remission was maintained with mycophenolate mofetil which helps in the recovery of coronary disease. Our case illustrates the serious cardiac involvement of PAN in a child that responded to intensive management.
  PubDate: Tue, 26 Apr 2022 04:50:00 +000
Enthesitis in Bowel-Associated Dermatosis-Arthritis Syndrome in an
Ulcerative Colitis Patient
- Abstract: Bowel-associated dermatosis-arthritis syndrome (BADAS) is a rare and recurrent neutrophilic dermatosis condition. Due to the rarity of this syndrome and the difficulty of the disease recognition and management, there was no clear reported incidence rate of this syndrome. 20% of patients after ileojejunal bypass surgery for morbid obesity were reported, by Jorizzo et al., to have BADAS. The underlying etiology of BADAS is not fully understood; therefore, the diagnosis of this condition is difficult and the approach for the management as well. Herein, we report a case of BADAS with unusual musculoskeletal presentation.
  PubDate: Tue, 12 Apr 2022 06:35:01 +000
A Case of Rapidly Progressing Hepatocellular Carcinoma after
Administration of JAK Inhibitors to Treat Rheumatoid Arthritis
- Abstract: We report a case of rapidly progressing hepatocellular carcinoma after administration of Janus kinase (JAK) inhibitors to treat rheumatoid arthritis. A 76-year-old man was referred to our Department for pain in multiple joints and was diagnosed with rheumatoid arthritis. Blood tests revealed elevated hepatobiliary enzymes, but various tests revealed no signs suggestive of malignancy. He took baricitinib for 2 months followed by tofacitinib for 4 months. After that, he was diagnosed with hepatocellular carcinoma based on imaging findings and elevated tumor markers. This case showed the possibility of a causal relationship between JAK inhibitors and malignancy.
  PubDate: Tue, 29 Mar 2022 06:50:01 +000
Hodgkin Lymphoma Mimicking Lumbar Spine Tuberculosis
- Abstract: Introduction. The clinical manifestations of Hodgkin lymphoma (HL) can closely mimic spine and lymph node tuberculosis (TB). Case Description. A 48-year-old man was initially treated for retroperitoneal lymph nodes TB, and this diagnosis was made without bacteriological and histopathological confirmation. After four months of regular therapy for TB, he did not improve and was admitted to our department for lumbar spine pain. We first made diagnosis of tuberculous spondylodiscitis, and anti-TB treatment was strengthened. But, after three weeks of hospitalization, his condition worsened clinically with onset of swelling of the left supraclavicular lymph node. So, after surgical excision and anatomopathological examination of the lymph node, the diagnosis of nodular sclerosis classic Hodgkin lymphoma was made. He was treated by chemotherapy, and his condition improved significantly after the first 2 cycles of chemotherapy. Conclusion. Repeated investigations may be helpful in establishing a correct diagnosis and starting an effective treatment in this highly curable disease.
  PubDate: Fri, 25 Feb 2022 05:05:00 +000
Erratum to “A Rare Case of Fatal Hemorrhagic Stroke in a Young Female
with Early Mixed Connective Tissue Disease”
- PubDate: Wed, 23 Feb 2022 04:35:00 +000
Chemosis as an Initial Presentation of Systemic Lupus Erythematosus
- Abstract: Systemic lupus erythematosus (SLE) can present in a multitude of ways, which can be confounding and misleading for a clinician. Chemosis as an initial presentation is rare and has only been documented on a few case reports. However, when present, simultaneous involvement of other organs is likely. We present a previously healthy 29-year-old male who presented with severe bilateral chemosis and was subsequently diagnosed with SLE and antiphospholipid syndrome. Complications included multiple acute cerebral infarcts, lupus psychosis, lupus pleuritis, and lupus nephritis. The patient recovered well with appropriate treatment and chemosis ultimately resolved. Recognizing chemosis as an initial presentation of SLE is vital for appropriate evaluation and timely treatment to prevent disease progression.
  PubDate: Tue, 15 Feb 2022 03:05:00 +000
New-Onset Systemic Lupus Erythematosus after mRNA SARS-CoV-2 Vaccination
- Abstract: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease resulting from the interaction of genetic and environmental factors. In addition, some antiviral vaccines have been associated with the onset of SLE. Few cases of SLE occurring after SARS-CoV-2 mRNA have been reported. Herein, we report the case of a 27-year-old woman with type I diabetes mellitus and family history of SLE who presented with symmetric inflammatory polyarthritis of the proximal interphalangeal joints, metacarpophalangeal joints, wrists, knees, and ankles two weeks after receiving the second dose of the SARS-CoV-2 mRNA-1273 vaccine. Laboratory results revealed positive antinuclear, anti-dsDNA, anti-Ro, and anti-La/SSB antibodies and low C4 levels. She was initially treated with low-dose prednisone and hydroxychloroquine. Hydroxychloroquine was discontinued after she developed an urticarial rash. Subsequently, mycophenolate mofetil was added after she developed proteinuria. This case highlights the importance of considering the diagnosis of SLE in patients who present with inflammatory polyarthritis after COVID-19 vaccination.
  PubDate: Fri, 11 Feb 2022 20:50:01 +000
Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever
- Abstract: Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. Colchicine resistance and intolerance in FMF patients have been rarely reported. Alternative anti-inflammatory agents are understood to be helpful in such cases. We describe a 13-year-old boy referred to our pediatric department complaining of chest pain, dyspnea, and tachycardia. Due to the massive pericardial and pleural effusion, a pericardiocentesis was performed, and a chest tube was inserted. Cardiac tamponade was considered as the initial diagnosis. After a month, he faced another episode of pleuritic chest pain, fever, tachycardia, and pleural and pericardial effusion. Evaluation for probable differential diagnoses including infection, malignancy, and collagen vascular disease showed no remarkable results. Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. Since he seemed to be nonresponsive to the maximum standard dose of colchicine, 100 mg of daily dapsone was added to his treatment regimen, which controlled the attack episodes well. FMF, while rarely initiated with cardiac manifestation, should be considered in patients with any early signs and symptoms of cardiovascular involvement.
  PubDate: Mon, 07 Feb 2022 06:20:00 +000
First Presentation of Systemic Lupus Erythematosus in a 24-Year-Old Male
following mRNA COVID-19 Vaccine
- Abstract: The SARS-CoV-2 viral pandemic has had an immeasurable global impact, resulting in over 5 million deaths worldwide. Numerous vaccines were developed in an attempt to quell viral dissemination and reduce symptom severity among those infected. Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of antinuclear autoantibodies (ANAs) with heterogenic clinical manifestations, secondary to immune complex deposition in a multitude of organ systems. There are scarcely reported cases of SLE development following COVID-19 mRNA vaccination. We present a case of a 24-year-old male without preexisting conditions or family history of autoimmune disorders, presenting with SLE following the first dose of the SARS-CoV-2 Pfizer-BioNTech mRNA vaccine.
  PubDate: Tue, 01 Feb 2022 05:50:00 +000
One in a Million: A Case Report of Stiff Person Syndrome
- Abstract: Stiff person syndrome (SPS) is a rare autoimmune disease caused by lack of inhibition to excitatory neurotransmitters in the central nervous system (CNS) leading to inappropriate motor unit firing. The pathophysiology is incompletely understood; however, high titers of antiglutamic acid decarboxylase antibody (anti-GAD Ab) are strongly associated with this disease. We present a 50-year-old woman with a history of ongoing gait and balance issues for 5 years with multiple negative workups. She recently had an acute exacerbation which left her bedbound, unable to move her legs or turn from side to side. After a negative workup at an outside hospital, the patient was discharged to a subacute rehabilitation facility. She then presented to our institution due to worsening of her condition and was ultimately diagnosed with SPS which was successfully treated. We review the case presentation and treatment options in the context of a severe disabling disease presentation.
  PubDate: Thu, 13 Jan 2022 12:35:00 +000
Extensive Longitudinal Transverse Myelitis after Influenza A Virus
Infection in a Patient with Systemic Lupus Erythematosus
- Abstract: Transverse myelitis (TM) is a rare complication seen in 1–2% of patients with systemic lupus erythematosus (SLE). Viral infections may cause TM in these patients by causing a dysregulation of their immune system. We report a 30-year-old woman with SLE who had influenza A and a few days later developed urinary retention, bilateral lower extremity paralysis, upper extremity weakness, and optic nerve and macular edema. Magnetic resonance imaging showed C4-T12 hyperintense lesions consistent with TM. She was treated with intravenous methylprednisolone 1 g daily for 3 days and then 6 cycles of monthly intravenous cyclophosphamide. This treatment was followed by oral prednisone. She had a remarkable clinical response. Visual acuity improved to her baseline, and muscle strength almost fully recovered. Clinicians should be aware that viral infections, including influenza, may induce TM. This case highlights the importance of early recognition and prompt treatment with immunosuppressive drugs in such cases.
  PubDate: Fri, 07 Jan 2022 07:20:00 +000