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Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.
BMJ Case Rep
December 2024
Lungemedicinsk, Vejle Sygehus, Vejle, Denmark.
Alkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. Our case involves a Caucasian male diagnosed in his 70s, who shares a constellation of symptoms and the diagnosis with his monozygotic twin brother. The symptoms include early-onset arthropathy, tendinopathy, osteopenia, discolouration of the auricular regions and fingers, scleral discolouration, secondary glaucoma, proteinuria, calcification of the mitral valve and black urethral and prostate stones.
View Article and Find Full Text PDFAchenbach Syndrome: A Case Report.
Clin Pract Cases Emerg Med
November 2024
Northwell Health, Southshore University Hospital, Department of Cardiology, Bay Shore, New York.
Introduction: Achenbach syndrome is a rare, benign condition characterized by painful discoloration of a finger. Recognition of this syndrome prevents unnecessary costly workup and risky interventions.
Case Report: A healthy, 54-year-old female was transferred to our emergency department (ED) from a community ED for vascular evaluation of discoloration and numbness to her finger.
Yellow nail syndrome linked to a mediastinal lipoma: a case report.
J Med Case Rep
December 2024
Department of Pulmonology, Pius-Hospital Carl Von Ossietzky University, Oldenburg, Germany.
Background: Yellow nail syndrome is characterized by a yellow discoloration of the nails, respiratory symptoms, and lymphedema. It was first described in 1964 and has an estimated prevalence of less than 1:1.000.
View Article and Find Full Text PDFImprovement of Post-sympathectomy Raynaud's Syndrome With Spinal Cord Stimulation.
Cureus
October 2024
Neurosurgery, The Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou Zhejiang, CHN.
Raynaud's phenomenon is a vascular disorder, characterized by vasospasm-induced discoloration, numbness, and pain in the extremities. While pharmacological treatments and sympathectomy are commonly employed, many patients experience symptom recurrence, and effective therapies for refractory cases remain limited. This case study presents a 60-year-old male with severe Raynaud's symptoms, including fingertip necrosis, unresponsive to pharmacotherapy and endoscopic thoracic sympathectomy.
View Article and Find Full Text PDFIncomplete superficial palmar arch and gangrene in the hand in a neonate with DOCK6 mutation.
BMJ Case Rep
November 2024
Neonatology, Himalayan Institute of Medical Sciences, Dehradun, India
The superficial palmar arch, formed by the branches of radial and ulnar arteries, supplies the blood to the hand. In cases of incomplete superficial palmar arch, the radial and ulnar branches fail to join. Any compromise to the ulnar blood supply in an incomplete superficial palmar arch can lead to subsequent gangrene.
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