2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis [PDF]
BMC Neurology, 2011 Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
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Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]
Journal of Medical Case ReportsBackground Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially ...
Yushi Oyama +5 more
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Case report: Cerebrotendinous xanthomatosis treatment follow-up [PDF]
Frontiers in NeurologyXanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient’s genetic profile.
Karolina Ejsmont-Sowała +9 more
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Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]
Archives of Endocrinology and MetabolismSitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão +3 more
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Cerebrotendinous xanthomatosis
Indian Dermatology Online Journal, 2016 Mahalakshmi Muniaswamy +3 more
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Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
Clinical Case Reports, 2023 Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid
Amal Chamli +4 more
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A clinical case of secondary xanthomatosis in a patient with biliary cirrhosis
Лечащий Врач, 2021 The article describes the clinical manifestations of secondary xanthomatosis in a 46-year-old patient with primary biliary cirrhosis who was consulted by a dermatovenerologist.
N. V. Zilberberg +7 more
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Clinical features of «metabolism» diseases of the skin in patients with chronic diffuse liver diseases [PDF]
Терапевтический архив, 2017 Aim. To determine the clinical features of skin diseases developing in the presence of metabolic disturbances in patients with chronic diffuse liver diseases. Subjects and methods. A total of 368 patients with different clinical forms of hepatopathy were
O N Pozdnyakova +3 more
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Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings
European Medical Journal Neurology, 2023 Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues.
Shubham Saini, Neha Bagri
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Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája [PDF]
, 2014 Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
Balogh István +10 more
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