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Related to xanthomatosis: cerebrotendinous xanthomatosis


A metabolic disorder characterized by excessive accumulation of lipids in the body and a resulting spread of xanthomas.

[New Latin xanthōma, xanthōmat-, xanthoma (xantho- + -oma) + -osis.]
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.xanthomatosis - widespread xanthomas (especially on elbows and knees); often associated with a disorder of lipid metabolism
xanthoma - a skin problem marked by the development (on the eyelids and neck and back) of irregular yellow nodules; sometimes attributable to disturbances of cholesterol metabolism
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.


n. xantomatosis, presencia de múltiples xantomas en la piel.
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive ?
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
It is characterized by normolipemic disseminated xanthomatosis that tends to localize on the face, trunk, flexural and intertriginous surfaces, is often associated with diabetes insipidus, and appears to run a chronic benign course.1 The disease predominantly affects male children and young adults.
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis. J Lipid Res 1985; 26(9):1126-1133.
Indeed, with the exception of a few kinds of hereditary ataxia (e.g., Niemann-Pick disease type C, cerebrotendinous xanthomatosis, coenzyme Q-10 responsive ataxia, or ataxia with vitamin E deficiency), no specific treatments exist for hereditary ataxia, including SCA (for a review, see Jayadev and Bird [13]).
Wolman, "Generalized xanthomatosis with calcified adrenals," A.M.A.
Burns, "Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice," The Journal of Clinical Investigation, vol.
Tests revealed she had the genetic condition cerebrotendinous xanthomatosis (CTX).
Primary familial xanthomatosis with involvement and calcification of adrenals: report of two more cases in siblings of a previously described infant.
Eder, "Atherosclerosis and aortic stenosis in hypercholesteremic xanthomatosis," Journal of the American Medical Association, vol.
Palau-Lazaro, "Small bowel obstruction due to intestinal Xanthomatosis," Case Reports in Pathology, vol.
Cerebrotendinous xanthomatosis (CTX), like O7AHD, can present in early infancy as cholestatic liver disease and in adult life with upper motor neuron signs (20).