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Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
J Clin Lipidol
June 2024
Center for Preventive Cardiology, Knight Cardiovascular Institute & Division of Endocrinology, Diabetes & Clinical Nutrition, OHSU, Portland, OR, United States of America (Dr Duell).
Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid disorder. Affected patients often remain undiagnosed until the age of 20-30 years, when they have already developed significant neurologic disease that may not be reversible. An elevated plasma cholestanol concentration has been accepted as a diagnostic criterion for CTX for decades.
View Article and Find Full Text PDFClinicopathologic and Molecular Characterization of Xanthomatous Giant Cell Renal Cell Carcinomas: Further Support for a Close Morphologic Spectrum to Eosinophilic Solid and Cystic Renal Cell Carcinomas.
Am J Surg Pathol
June 2024
Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
A recent study described a rare subtype of tuberous sclerosis complex ( TSC )-mutated renal cell carcinoma primarily characterized by Xanthomatous giant cell morphology. Only 2 cases in young individuals have been reported so far, making the correct diagnosis challenging from a pathological perspective. It remains unknown whether this tumor represents an independent subtype or belongs to other TSC -mutated tumors.
View Article and Find Full Text PDFHomozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy.
BMJ Case Rep
October 2022
Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India
Homozygous familial hypercholesterolaemia (HoFH) is a disorder affecting low-density lipoprotein (LDL) receptor genes. Patients typically have a triad of elevated LDL-cholesterol (LDL-C), xanthomatosis and premature atherosclerotic cardiovascular disease. Our patient, a preteen boy, presented with signs of hypertensive encephalopathy.
View Article and Find Full Text PDFTuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life-threatening diagnosis.
Clin Exp Dermatol
December 2022
Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
We report the case of a 9-year-old girl who presented with asymptomatic lesions on the extensor surfaces of the elbows and knees, in keeping with tuberous xanthoma. She was investigated and diagnosed with homozygous familial hypercholesterolaemia, and commenced on lipid-lowering treatment. We highlight the importance of identification of this condition early, such that life-saving treatment can be initiated and premature death avoided.
View Article and Find Full Text PDFTumorous tendinous (tuberous) xanthomas.
J R Coll Physicians Edinb
June 2022
Mile End Hospital, Barts Health NHS Trust, London, UK.
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