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Articles tagged with "case report"

Case Report: An Uncommon Presenting Complaint of GPA

Adina Greene, BA, Sabrina Dahak, MD, Wesley A. Robertson, MD, Denege Ward-Wright, MD, & Kristen Young, DO, MEd  |  August 6, 2024

Granulomatosis with polyangiitis (GPA) is a small vessel vasculitis associated with anti-neutrophil cytoplasmic antibodies (C-ANCA), specifically proteinase 3 (PR3) ANCA. GPA classically presents with multi-organ involvement. The first description of GPA defined a triad of features: 1) systemic necrotizing angiitis, 2) necrotizing inflammation of the respiratory tract and 3) necrotizing glomerulonephritis.1 Few cases of digital…

Case Report: Diaphragm Ultrasound Reveals Shrinking Lung Syndrome

Mery Deeb, MD, Taro Minami, MD, Michael Stanchina, MD, Elias Jabbour, MD, & Jan Karczewski, MD  |  July 9, 2024

Shrinking lung syndrome (SLS) is a rare cause of dyspnea that has been most commonly described in patients with systemic lupus erythematosus (SLE), but is also found in systemic sclerosis, Sjögren’s disease and rheumatoid arthritis. Shrinking lung syndrome is characterized by a restrictive pattern on lung spirometry, despite normal lung parenchyma, and an elevated diaphragm.1…

A Case of Lupus Podocytopathy

Vineetha Philip, MD, MPH, Myriam Guevara, MD, Angelina Edwards, MD, & Ziad M. El-Zaatari, MD  |  June 17, 2024

Kidney involvement is a major cause of morbidity and mortality in systemic lupus erythematosus (SLE). Collectively termed lupus nephritis, SLE with kidney involvement comes in many subtypes. The current classification by the International Society of Nephrology/Renal Pathology Society (ISN/RPS), however, does not include lupus podocytopathy, which, through various clinical and epidemiologic studies, has recently been…

Case Report: Persistent Pruritic Plaques in Adult-Onset Still’s Disease

Kubra Bugdayli, MD, Ahmed Eldaboush, MD, Sanjana Aggarwal, MBBS, & Bonnie Bermas, MD  |  May 5, 2024

Adult-onset Still’s disease (AOSD) is a systemic autoinflammatory disorder characterized by persistent fever at regular intervals, arthralgias or arthritis, rash, sore throat and neutrophilic leukocytosis.1,2 Significant elevation in ferritin levels is characteristic and tends to correlate with disease activity. Additional clinical features may include myalgias, lymphadenopathy, hepatosplenomegaly, serositis, myocarditis, abnormal liver function tests and development…

Case Report: Complicated Presentation Eventually Explained by Rare Syndrome

Geoffrey E. Thiele, MD, & Iris Reyhan, MD  |  April 10, 2024

Pachydermoperiostosis (PDP), also known as Touraine-Solente-Golé syndrome or primary hypertrophic osteoarthropathy, is a rare syndrome that can be inherited as autosomal dominant, autosomal recessive, or sporadically. This progressive disease primarily affects males, who tend to have more severe features than females. PDP usually occurs during adolescence, often starting around puberty.1 The main clinical features are…

Image Case Report: Glandular Swelling

Hung Vo, MD, Zhichun Lu, MD, & Eugene Kissin, MD  |  November 8, 2023

The Case A 47-year-old woman presented with a one-year history of bilateral submandibular gland swelling, mild symptoms of xerostomia and xerophthalmia and arthralgias in her fingers. A review of systems was otherwise unremarkable. On physical examination, her submandibular glands on both sides were enlarged and had a firm texture. Her parotid glands were normal, as…

Case Report: Pneumatosis Cystoides Intestinalis

Jagmohan S. Jandu, MD, MA, Sri Harsha Boppana, MD, Prahlad A. Reddy, MD, & Atigadda N. Reddy, MD, FACP, FACG, AGAF  |  November 8, 2023

Pneumatosis cystoides intestinalis (PCI) is a rare gastrointestinal pathological process defined by the presence of gas within the layers of the intestinal wall, commonly within the mucosa and submucosa of the small and large intestines.2,3 PCI has been described in the literature in association with various connective tissue diseases, including scleroderma, mixed connective tissue disease,…

Case Report: Hajdu-Cheney Syndrome

Ibtissam Gad, MD, Firas Askar, MD, Sudhaker Rao, MD, & Ayad Alhatib, MD  |  October 11, 2023

Hajdu-Cheney syndrome (HCS) is a rare connective tissue disease, with fewer than 100 cases reported worldwide.1 Hallmark features include acro-osteolysis (i.e., resorption of the distal phalanges of the hands and feet), osteoporosis, facial dysmorphisms, and craniofacial and dental abnormalities. Patients often have short stature and can have neuroanatomical deformities causing intellectual disabilities. These patients can…

Case Report: Giant Cell Arteritis-Related Stroke

Jessica Meek, MD, Anna Coppinger, DO, & Sejal Khan, DO  |  September 10, 2023

Thromboembolic events are major contributors to the morbidity and mortality of patients with giant cell arteritis (GCA), but little is known about how GCA may increase the risk of ischemic strokes. GCA-related stroke is described as an ischemic cerebral infarct occurring within three to four weeks of GCA diagnosis and treatment. It occurs in 3–7%…

Case Report: A Patient Presents with Digital Ischemia & Gangrene

Nedal Darwish, MD, Mohamed Manaa, MD, Griffin Reyes, MD, & James G. Freeman, MD  |  June 10, 2023

Defined by the presence of antiphospholipid antibodies (aPL) in individuals with clinical evidence of thrombosis or pregnancy morbidity, antiphospholipid syndrome (APS) is a systemic autoimmune thrombophilia. Clinical thrombosis, which should be confirmed by objective validated criteria (e.g., imaging studies or histopathology), can occur in the arterial, venous or small vessel vasculature and is not limited…

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