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…
Search results for: diffuse systemic sclerosis
ACR Image Competition 2022 Results, Part 6
Diffuse Cutaneous Scleroderma with Interstitial Lung Disease: Radiological Findings A 44-year-old woman with cutaneous manifestations, tightening of her face with a reduced oral aperture and a healing digital tip ulcer (Figures 1 and 2) has had a known case of diffuse scleroderma since 2008. The patient presented with complaints of shortness of breath along with…
ACR Image Competition 2022 Results, Part 5
Resolution of GAVE After aHSCT for Progressive Systemic Sclerosis A 30-year-old man with RNA polymerase III (Pol III)-positive, diffuse, progressive systemic sclerosis had a persistent microcytic anemia with a hemoglobin level of 8 g/dL and evidence of gastric antral ventral ectasia (GAVE) on gastroscopy. He underwent autologous hematopoietic stem cell transplantation (aHSCT). After six months,…
ACR Image Competition 2022 Results, Part 2
Tumoral Calcinosis in Systemic Sclerosis Plain radiograph and computed tomography images depict calcinosis in the region of the right shoulder, left elbow and cervical spine of a 71-year-old woman with a 20-year history of systemic sclerosis. Manifestations include high-titer anti-Scl-70 antibody, diffuse skin involvement, Raynaud’s syndrome, acro-osteolysis, gastroesophageal reflux disease, interstitial lung disease and complete…
Highlights from the ACR Review Course 2022
PHILADELPHIA—At ACR Convergence 2022, the much-anticipated ACR Review Course featured talks from eight experts. Topics reflected the heterogeneity of our field and included Sjögren’s disease, spondyloarthritis (SpA), osteoarthritis (OA), paraneoplastic rheumatic syndromes, metabolic bone disease, statin myopathy, Raynaud’s phenomenon and autoinflammatory syndrome. Here, I share highlights from this comprehensive, six-hour session. Sjögren’s Disease Sara S….
Pearls of Wisdom from an Expert: Challenging ILD Cases with a Pulmonologist-Rheumatologist
Erin Wilfong, MD, PhD, shared her niche expertise in connective tissue disease ILD (CTD-ILD) via case-based learning during a session of the 2022 ACR Education Exchange.
Case Report: MPA Hiding in Plain Sight
The COVID-19 pandemic has filled hospitals with patients with rapidly progressive respiratory failure and diffuse bilateral opacities on chest X-ray.1 Additionally, many patients with severe COVID-19 develop acute kidney injury and require dialysis.2 Pulmonary-renal syndromes are also important to consider in this setting. Although alveolar hemorrhage is a cardinal feature of this syndrome, many patients…
The Ins & Outs of ILD: The Management & Treatment of ILD in Patients with Rheumatic Disease
Melissa Griffith, MD, discussed the diagnosis and treatment of interstitial lung disease (ILD) in patients with rheumatic diseases, including connective tissue disease and more.
In the Thick of It: Scleroderma Update 2021
Laura Hummers, MD, MSc, provided an update on the extra-pulmonary manifestations of scleroderma & the best ways to approach management of these issues.
Advances in Connective Tissue Disease-Associated Interstitial Lung Disease
ACR Convergence 2021—The past year has been an exciting time for researchers and clinicians focused on the topic of connective tissue disease-associated interstitial lung disease (CTD-ILD), with advances in our understanding of these disorders and newly approved medications for their treatment. At the ACR Convergence 2021 annual Review Course, Kristin Highland, MD, MSCR, director of…
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