Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
JIMD Reports, 2021 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Radhika Dhamija +2 more
exaly +2 more sources
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
doaj +2 more sources
Xantogranuloma juvenil: a benignidade por trás de uma lesão atípica [PDF]
Residência Pediátrica, 2023 OBJECTIVE: To describe a rare case of Juvenile Xanthogranuloma (JXG) in an infant in order to inform more about this pathology little described in academia, thus avoiding unnecessary treatments and approaches.
Roberta Leão Bassi +2 more
doaj +1 more source
Cerebrotendinous xanthomatosis
Indian Dermatology Online Journal, 2016 Mahalakshmi Muniaswamy +3 more
doaj +3 more sources
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
doaj +2 more sources
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis [PDF]
Brain, 1999 We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord.
Verrips, A. +11 more
openaire +5 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source