Results 131 to 140 of about 4,802 (174)

Subcutaneous xanthomatosis

British Journal of Dermatology, 1990
A patient with multiple subcutaneous xanthomata in whom there were only minor abnormalities of the fasting serum lipid profile is described. To our knowledge, this is only the second published case of subcutaneous xanthomatosis.
C B, Archer, D E, Sharvill, N P, Smith
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Cerebrotendinous Xanthomatosis

Archives of Ophthalmology, 1976
A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.
W P, Kearns, W S, Wood
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Sitosterol xanthomatosis

Journal of the European Academy of Dermatology and Venereology, 2006
AbstractBackground  Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.Objective  To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease ...
S S S, Guirado, J S, Conejo-Mir, M A, Muñoz, J B, Wite, L R, Fernandez-Freire, J V, Ortíz   +5 more
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Cerebrotendinous xanthomatosis

Clinical Neurology and Neurosurgery, 1992
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas.
J L, van Hellenberg Hubar, E M, Joosten, R A, Wevers   +2 more
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MYELOMATOSIS WITH XANTHOMATOSIS

Annals of Internal Medicine, 1961
Excerpt During the last decade considerable attention has been focused on the serum protein aberrations in multiple myeloma.1Little information has been presented, however, regarding the serum lipi...
B, FRAME, M R, PACHTER, R K, NIXON
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Cerebrotendinous Xanthomatosis

The Journal of Dermatology, 1990
AbstractA case report on a 23‐year‐old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia.
S Y, Hwang, K H, Lee, J I, Ahn
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Dyslipoproteinemia and Xanthomatosis

Pediatric Dermatology, 1984
Abstract: The cutaneous markers associated with dyslipoproteinemia are reviewed in the context of the current view of lipid and lipoprotein metabolism. The utility of determining the plasma levels of lipoprotcins and certain apoproteins in children or adults with xanthomas or xanthelasma is discussed.
C, Haber, P O, Kwiterovich
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Cerebrotendinous xanthomatosis

Journal of the American Academy of Dermatology, 2001
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel, V, García-Patos, L, Rodríguez, A, Selva, P, Díaz, B G, Wolthers, A, Castells   +6 more
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XANTHOMATOSIS

Journal of the American Medical Association, 1943
Though xanthomatosis is but a single manifestation of a systemic pathologic condition, only recently has this disturbance in cholesterol metabolism seriously occupied the attention of any one but the dermatologists. Latterly the occurrence of cardiovascular involvement with cutaneous xanthomatosis has likewise been noted by the internists,1but because ...
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Essential Xanthomatosis

American Journal of Ophthalmology, 1962
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