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…
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…
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,…
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…
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%…
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…
Granulomatosis with polyangiitis (GPA) is a primary, necrotizing granulomatous vasculitis, involving small- to medium-sized arteries, that causes systemic disease. Almost any organ can be affected, but the most affected systems are the upper airways, lungs, kidneys, eyes and peripheral nerves. Migratory polyarthritis is reported in approximately 25% of patients with anti-neutrophil cytoplasmic antibody (ANCA) associated…
Granulomatosis with polyangiitis (GPA) is a type of anti-neutrophil cytoplasmic antibody (ANCA) associated small vessel vasculitis that typically affects the kidneys, lungs and sinuses.1 Due to an overlap in signs and symptoms, GPA may initially be difficult to distinguish from IgG4-related disease, another condition that can affect multiple tissues and has variable presentations. Further complicating…
COVID-19 causes myriad cardiac dysfunctions, ranging from mild to fulminant disease, including myocarditis, acute congestive heart failure, cardiogenic shock and sudden cardiac death.1,2 COVID-19 myocarditis can mimic cardiac sarcoidosis clinically and on cardiac imaging, which can lead to diagnostic challenges and treatment delays. We present a case of cardiac sarcoidosis with interval development of metabolic…
Systemic autoinflammatory diseases (SAIDs) are rare syndromes characterized by alterations in innate immunity that result in a variety of clinical manifestations that are usually associated with recurrent fevers.1 Thanks to advances in genetic sequencing over the past few years, monogenic causes for some of these autoinflammatory diseases, such as Yao syndrome, have been discovered.2 Previously…