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A rare presentation of neurofibromatosis mimicking leprosy.
J R Coll Physicians Edinb
January 2025
AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.
Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by café-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn't show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis.
View Article and Find Full Text PDFAn unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFErlotinib-induced Perioral Lesions Resembling Scleroderma.
Acta Dermatovenerol Croat
November 2024
Constantin A. Dasanu MD, PhD, Lucy Curci Cancer Center, Eisenhower Health, 39000 Bob Hope Dr, Rancho Mirage, CA 92270 , USA;
Erlotinib, an epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI), is currently used in the therapy of several solid malignancies. This agent has been associated with several dermatological side-effects, the most common being papulo-pustular acneiform rash. Herein we describe a unique skin effect in a patient treated with erlotinib for non-small cell lung cancer.
View Article and Find Full Text PDFUnusual Presentation of Hyperandrogenism in Postmenopausal Women: A Report of Two Patients With Leydig Cell Hyperplasia.
Cureus
December 2024
Endocrine and Diabetes Unit, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, BEL.
Hyperandrogenism is a highly prevalent and debilitating hormonal disturbance encountered in women presenting with variable phenotypical features. Causes encompass a large spectrum of tumoral and nontumoral etiologies, depending on the patients' age. We report two postmenopausal patients with an unusual etiology of hyperandrogenism.
View Article and Find Full Text PDFA Case Series on the Devastating Simultaneous Bilateral Fracture of Ankles That Remains Under-reported: Can We Address the Career-Ending Injuries?
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, Chris Hani Baragwanath Academic Hospital, University of the Witwatersrand, Johannesburg, South Africa.
Introduction: Bilateral simultaneous rotational ankle fractures are an unusual phenomenon that remains unreported in the English literature, and to our knowledge, about 10 cases have been reported. The aim of the study was to evaluate and report clinical outcomes of bilateral simultaneous ankle fractures in our institution.
Case Reoprt: We conducted a review of our 2-year experience with patients who had simultaneous bilateral fractures of the ankles and were treated at our institution.
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