Background. Generalized morphea is a rare fibrosing skin illness that progresses from erythematous, violet-colored skin patches to sclerotic plaques. Another uncommon immune-mediated connective tissue disease called eosinophilic fasciitis (EF) evolves to cause sclerosis and woody skin induration. The coexistence of the two is extremely rare and has a poorer prognosis. Our case report is one of the first to report burn injuries as a trigger factor for EF and generalized morphea overlap. Case Presentation. A 36-year-old man presented with acute onset of rapidly progressing skin thickening, tender edema, and skin contractures involving all extremities, shortly after enduring burn injuries from a gasoline explosion. Workup was remarkable for peripheral eosinophilia, hypergammaglobulinemia, and elevated C-reactive protein. Skin biopsy demonstrated sclerodermoid changes and sclerotic thickening of subcutaneous fibrous septa associated with stromal mucin, dermal perivascular, diffuse lymphoplasmacytic infiltrate with eosinophils, decreased CD34 expression, and increased factor XIIIa. He was subsequently diagnosed with an overlap of generalized morphea and eosinophilic fasciitis. The patient had only limited improvement with steroids, methotrexate, mycophenolate mofetil, and intralesional triamcinolone acetonide injections. Conclusion. Generalized morphea with concomitant EF indicates some degree of therapeutic resistance and poor prognosis with a low quality of life. Burn injuries can be a trigger factor for this overlap syndrome. Prompt identification of at-risk individuals and initiating aggressive management are necessary.

Hania Sami

Faria Sami

Shahzad Ahmed Sami

Abdulqadir J. Nashwan

A Severe Case of Overlap of Morphea and Eosinophilic Fasciitis after Burn Injuries

Methotrexate is a first-line disease modifying antirheumatic drug used for the treatment of inflammatory arthritis. Bone marrow suppression is a common adverse reaction of methotrexate following its long-term use. However, low dose methotrexate is rarely associated with life-threatening bone marrow suppression. This case represents an atypical presentation of acute bone marrow suppression shortly after initiating treatment with low-dose methotrexate. A 76-year-old male patient presented with oral ulcers, poor oral intake, and acute kidney injury within 3 weeks of initiating 15 mg weekly of methotrexate for seronegative rheumatoid arthritis. Complete blood count was suggestive of pancytopenia with hemoglobin of 10.8 g/dL, total white cell count 3.36 (1000/uL) (absolute neutrophil count 490 micro/L), platelets 19,000, serum albumin 3.1 g/dL, ESR elevated at 83 mm/hr, CRP elevated at 86.6 mg/L, and ferritin mildly elevated at 625 ng/mL. Peripheral blood smear showed signs of bone marrow suppression but no signs of hemolysis or inflammation. Serum methotrexate levels were minimally detectable at 0.05 umol/L. Methotrexate was held, within 48 hours of admission; his WBC dropped to 1.48, Hgb 9.9, and platelets 15,000. ANC reached a nadir of 220. He was treated with broad spectrum antibiotics, high-dose folic acid, fluconazole for oral thrush, and intravenous bicarbonate and leucovorin supplementation, dosed at PO 20 mg daily. On day 7, his blood count showed improvement along with improvement in his symptoms. The patient was discharged home on day 8th of hospitalization and upon one month follow-up in rheumatology clinic, his complete blood count had normalized. This case highlights multiple risk factors that triggered pancytopenia in our elderly patient, resulting in acute methotrexate toxicity.

Samreen Khuwaja

Matthew Lyons

Beenish Zulfiqar

A Rare Case of Acute Methotrexate Toxicity Leading to Bone Marrow Suppression

Introduction. Inflammatory sacroiliitis is common in rheumatology practice. Spondyloarthritis is often underdiagnosed due to the lack of proper evaluation of the sacroiliac joints (SIJs), clinically and radiographically. If SIJ is inflamed or arthritic, the arthritic said patient typically has spondyloarthritis, in the absence of infections or crystal arthritis. Sacroiliitis, in particular, when diagnosed between 12 and 45 years of age, is indicative of spondyloarthritis. People are often misdiagnosed and mislabeled as fibromyalgia because their serologies are negative. Our goal is to point out the importance of proper evaluation, diagnosis, and importance of inflammatory SIJ disease and conditions that involve SIJ inflammation. Cases. We present three rare conditions presenting with bilateral and symmetric SIJ disease, none of which is ankylosing spondylitis, Crohn’s colitis, ulcerative colitis, psoriatic arthritis, and reactive arthritis (Reiter syndrome); there are reports of concurrent SIJ disease in rheumatoid arthritis and SLE. Conclusion. The authors believe that SIJ disease is overlooked, is underdiagnosed, and can lead to incorrect treatment. We suggest a greater focus on SIJ imaging in the diagnosis and treatment of unexplained illnesses associated with low back pain, morning stiffness, or unexplained buttock pain. Providers should review their own SIJ films. The meaning of SIJ widening, cortical irregularity, spurs, and the significance of the anterior inferior SI joints, bone marrow edema, and fusion (namely, the natural history of sacroiliac pathophysiology).

Stephen Soloway

Alyxandra M. Soloway

Tyler G. Chin

Timothy Lieske

Rare Case Studies of Bilateral and Symmetric Sacroiliac Disease

Peripheral neuropathy is a common manifestation of systemic vasculitis. The etiology of vasculitic peripheral neuropathy is generally classified into two groups: systemic and nonsystemic. In systemic vasculitic neuropathy (SVN), neuropathy is a consequence of a systemic disease, most commonly involving medium and small vessels throughout the body. There are three main clinical presentations: multifocal neuropathy, distal symmetric polyneuropathy, and overlapping multifocal neuropathy. Specifically, distal symmetric polyneuropathy affects multiple somatic nerves diffusely in a symmetric and length-dependent pattern (also known as the classic stocking-glove pattern). This case represents an atypical presentation of SVN, presenting with widespread symmetric polyneuropathy.A 73-year-old woman presented with distal acute on chronic bilateral upper and lower extremity weakness, sensory changes, and widespread pain. Symptoms started about three months prior and gradually worsened with progressive difficulty with ambulation and required assistive devices. Elevated ESR is at 70 mm/hour, CRP at 25.66 mg/dL, elevated c-ANCA titers at 1 : 320 and PR3 at 5.0 AI, and elevated creatine kinase (CK) at 500–600 U/L. A muscle biopsy of the left vastus showed neurogenic atrophy without myositis. Initial improvement was with oral prednisone, but was stopped on discharge. Many purpuric and petechial lesions were developed on distal legs/feet and right fourth digit distal gangrene. EMG showed distal, symmetric, and axonal polyneuropathy affecting the upper and lower extremities and acute denervation in more distal muscles. The patient received pulse dose steroids and two doses of rituximab induction therapy and was discharged with an oral steroid taper. The patient’s symptoms started as distal symmetric neuropathy at the onset and progressively worsened over the course of 3 months. Neuropathy, both on the exam and on EMG, seemed to have developed more rapidly than expected, regardless of its distribution. The EMG showed severe peripheral nerve damage and denervation, which is unusual for ANCA-associated systemic vasculitis.

S. Wang

Arsany A.

D. Feinstein

P. Traisak

H. Eid

M. Karpoff

An Unusual Case of Peripheral Nerve Vasculitis

Background. Tolosa–Hunt syndrome (THS) is a rare disorder involving the orbital and retro-orbital space. The typical symptoms include sensory loss in the trigeminal nerve’s distribution, orbital pain, swelling, headaches, and cranial nerve palsies. Case Presentation. We report a 40-year-old female who initially presented with biparietal headache, unresponsive to medication, which then led to ophthalmoplegia and orbital pain. Serological findings demonstrated positive CANCA-PR3. She was initially treated with 1 g pulse methylprednisolone for three days. Based on the rheumatological evaluation and her positive lung nodule, hematuria, dysmorphic red blood cells, and positive antiproteinase 3 classic antineutrophil cytoplasm antibodies (CANCA-PR3) and also based on the diagnostic criteria for granulomatosis with polyangiitis criteria for Wegner disease, her treatment was continued with prednisolone 1 mg/kg and also rituximab at the first and 14th day of treatment. Conclusion. In our case of THS, we achieved satisfactory improvement in symptoms through the administration of high-dose steroids.

Maryam Mohebbi

Shahriar Nafissi

Majid Alikhani

A New Case of Granulomatosis with Polyangiitis Presented with Tolosa–Hunt Syndrome Manifestations

Objectives. Rare metabolic bone diseases can present with symptoms mimicking more common rheumatological conditions including spondyloarthritis, osteoarthritis, and fibromyalgia. Increasing awareness of these rare diseases within the rheumatology community is vital to ensure that affected patients are diagnosed and appropriately treated. The literature includes several reports of tumour-induced osteomalacia initially diagnosed as rheumatic disease, but other rare diseases such as X-linked hypophosphatemia (XLH) and hypophosphatasia (HPP) also deserve attention. Here, we describe two cases of adult patients incorrectly diagnosed with ankylosing spondylitis and osteoarthritis who, upon referral to a metabolic bone disease specialist, were subsequently diagnosed with XLH and HPP, respectively, profoundly altering their management. Methods. The cases were collected from Brigham and Women’s Hospital, Boston, MA, USA, and Vanderbilt University Medical Center, Nashville, TN, USA. Results. Details of the patients’ respective medical and family histories are presented, and the clinical and biochemical investigations undertaken to reach the correct diagnoses are described. Conclusion. Rheumatologists should be encouraged to think beyond common rheumatological diseases when faced with symptoms such as bone pain, muscle pain, and stiffness, especially when accompanied by manifestations including atraumatic fractures, poor dentition, and hearing loss. In cases where one of these rare diseases is suspected, referral to a metabolic bone disease specialist for confirmation of diagnosis is encouraged as effective treatment options have recently become available.

Julia F. Charles

Alan O. Malabanan

Stan Krolczyk

Kathryn M. Dahir

Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases

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Case Reports in Rheumatology publishes case reports and case series on paediatric and adult rheumatological and musculoskeletal conditions, including novel therapies and advances in surgery and imaging.

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Case Reports in Rheumatology - Table of contents 2024

title

Case Reports in Rheumatology publishes case reports and case series on paediatric and adult rheumatological and musculoskeletal conditions, including novel therapies and advances in surgery and imaging.

Case Reports in Rheumatology