Familial Xanthomatosis
نویسندگان
چکیده
منابع مشابه
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.
Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional he...
متن کاملTuberous Xanthomatosis as a Presentation of Familial Hypercholesterolemia
Xanthomas are localized lipid deposits within organs that may manifest as papules, plaques, or nodules in skin. The subtype of xanthoma provides a clue to the underlying lipid abnormality. Accurate diagnosis of xanthomas is important because it can lead to the identification and treatment of underlying disease. Xanthomas associated with familial hypercholesterolemia are an exception. In patient...
متن کاملSevere xanthomatosis associated with familial apolipoprotein E deficiency.
AIM To present the clinical, dermatological, and histological features of a patient with generalised xanthomatosis, familial apolipoprotein (apo) E deficiency, and unusual type III hyperlipoproteinaemia (HLP). METHODS The underlying molecular defect was disclosed using molecular biological techniques. The unusual xanthomas were histologically analysed and the morphology of the abnormal lipopr...
متن کاملSpinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
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. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array ...
متن کاملFamilial Hypercholesterolemia and Xanthomatosis Associated with Diabetes Mellitus: A Case Report and Review of the Literature
Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasma and premature arcus corneae. It is associated with an increased risk of premature coronary heart disease, which is further increased if there is co-existing diabetes mellitus. A 35-year-old female who developed cut...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1956
ISSN: 0035-9157
DOI: 10.1177/003591575604901231