1/24. liver transplantation in a child with severe hypercholesterolaemia in alagille syndrome.INTRODUCTION: liver transplantation is a curative treatment modality in children with end stage liver disease in alagille syndrome. CLINICAL PICTURE: We report a 3-year-old child with this condition who had severe hypercholesterolaemia, pruritus and extensive xanthomatosis. TREATMENT: liver transplantation was performed in this patient. OUTCOME: He recovered well with normalisation of his lipid profile. This procedure also resulted in resolution of the disfiguring xanthomatosis.- - - - - - - - - - ranking = 1keywords = xanthoma (Clic here for more details about this article) |
2/24. Eruptive xanthomas and chest pain in the absence of coronary artery disease.Because hyperlipidemia may present as xanthomas, a dermatologist may be the first to diagnose these skin lesions and associated lipid abnormalities. Xanthomas are of concern because of their association with coronary artery disease and pancreatitis. We describe the case of a 40-year-old white male with chest pain and eruptive xanthomas. Laboratory tests revealed severe hypercholesterolemia, hypertriglyceridemia, and diabetes mellitus, and the histopathology of the skin lesions was consistent with eruptive xanthomas. Surprisingly, even with overwhelming risk factors for both atherosclerosis and pancreatitis, this patient did not show evidence of either disease process. After initiating therapy for the diabetes and hyperlipidemia, the patient has had no recurrence of chest pain, and the skin lesions have gradually resolved. The most likely explanation for this patient's pattern of symptoms and laboratory results is the chylomicronemia syndrome, which can be seen in patients with type I or type V hyperlipoproteinemia.- - - - - - - - - - ranking = 3.5keywords = xanthoma (Clic here for more details about this article) |
3/24. Coronary heart disease in familiar hypercholesterolemia.autopsy findings of a 36-year-old male with familiar hypercholesterolemia were reported and discussed. Hyperlipoproteinemia found in this case might belong to the type IIa in the classification of hyperlipoproteinemia while there was no skin lesion such as xanthoma and hypertension. Remarkable strictures due to atherosclerotic plaques in the lumens of the right and left coronary arteries and wide-spread myocardial infarction in the left ventricle were found. In the aorta just above the aortic valve there were atherosclerotic plaques in which foam cells could be seen. From the histological findings of the aortic valve the possibility that the thickening of the valve might have been induced by a similar mechanism as that of aorta and coronary arteries was suggested.- - - - - - - - - - ranking = 0.5keywords = xanthoma (Clic here for more details about this article) |
4/24. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.Previously we have reported on siblings with severe hypercholesterolemia, xanthomas, and premature atherosclerosis without any impairment of low-density lipoprotein receptor in their fibroblasts as a first characterization of autosomal recessive hypercholesterolemia (ARH). Recently, mutations were identified for this disease in a gene encoding a putative adaptor protein. The purpose of this study was to examine the molecular pathogenesis of ARH in Japanese siblings. A novel insertion mutation was discovered in the ARH gene of the siblings. An insertion of an extra cytosine residue was identified in a locus comprising eight consecutive cytosines at positions 599 through 606 in exon 6, resulting in a sequence of nine cytosines and generating an early stop codon at 657-659. The mother was heterozygous for this mutation. Neither transcription product nor protein of ARH was detected in the fibroblasts of the homozygous patients. A single nucleotide polymorphism was discovered among the normal control subjects at position 604 (cytosine to thymine: ARH-604C to ARH-604T), which changes the proline residue at 202 to serine. Interestingly, ARH is caused by a mutation of cytosine to adenine at this same position. Both siblings exhibited fatty liver, which may also be related to this mutation.- - - - - - - - - - ranking = 0.5keywords = xanthoma (Clic here for more details about this article) |
5/24. Xanthomatized atypical T cells in a patient with mycosis fungoides and hyperlipidemia.BACKGROUND--Lipoprotein-T-cell interactions are being reported with increasing frequency, and there is evidence that lipoproteins play a role in immunoregulation. We describe a patient with mycosis fungoides and hyperlipidemia who developed xanthomatization in one preexisting plaque. The case is unique in that some of the lipidized cells were atypical T cells. In previously reported cases of mycosis fungoides with dystrophic xanthomatosis, the lipid-containing cells have been identified only as histiocytes. OBSERVATIONS--Immunopathologic features, electron microscopy, and lipid stains of the xanthomatized plaque demonstrated that some of the lipid-laden cells were atypical T cells. CONCLUSIONS--In mycosis fungoides, malignant T cells may be intimately involved in processing of tissue lipids. We suggest that low-density lipoprotein receptors on activated T cells facilitated the cytoplasmic lipidization in this case.- - - - - - - - - - ranking = 1.5keywords = xanthoma (Clic here for more details about this article) |
6/24. Case report 754: Xanthoma of the achilles tendon.The MRI features of bilateral xanthoma of the achilles tendon in type II hyperlipoproteinemia are reported. MRI has proved to be the best imaging modality available in assessing enlargement of the achilles tendon. It demonstrates the heterogeneous signal on both T1- and T2-weighted images where the xanthomatous deposits are relatively higher in signal intensity than the tendon itself. MRI also has a potential value in the clinical assessment and therapeutic response of the xanthoma after operative intervention.- - - - - - - - - - ranking = 1.5keywords = xanthoma (Clic here for more details about this article) |
7/24. Relief of intractable pruritis in alagille syndrome by partial external biliary diversion.BACKGROUND: patients with alagille syndrome (AGS) may develop pruritis, skin hypertrophy, and xanthomas because of chronic cholestasis and hypercholesterolemia. Partial external biliary diversion (PEBD) has been used successfully to treat chronic cholestasis in patients with progressive familial intrahepatic cholestasis (PFIC) and is a potentially useful treatment for patients with severe and intractable pruritis because of AGS. methods: Four children with chronic cholestasis and intractable pruritis were treated with PEBD, 1 by surgical cholecystostomy and 3 by cholecystojejunostomy. RESULTS: Three patients had a known diagnosis of AGS. The fourth was an 11-month-old infant boy with PFIC. The first patient, a 15-month-old boy with AGS, underwent surgical cholecystostomy, which has required frequent tube changes to maintain patency. Three patients underwent PEBD using a segment of jejunum as a conduit between the gallbladder and the skin, where bile is collected in a standard ostomy appliance. Mean follow-up is 15.5 months (range, 9-26 months). All patients experienced rapid and enduring relief of pruritis. Two adolescents with AGS had significant improvement of the hypertrophic skin of their hands. There was one significant complication: the infant with PFIC required reoperation for bleeding from the jejunal anastomosis 1 week after PEBD; he has subsequently done well. One adolescent girl with AGS initially had difficulty with her ostomy because of poor site placement and partial retraction, but nevertheless has managed quite well. The patient treated by cholecystostomy has had excellent relief of his pruritis and is being considered for conversion to cholecystojejunostomy. CONCLUSIONS: Chronic cholestasis caused by AGS can cause debilitating symptoms that are resistant to medical therapy. Partial external biliary diversion is a safe and technically straightforward operation that may be effective for the relief of intractable pruritis and other symptoms in patients with AGS.- - - - - - - - - - ranking = 0.5keywords = xanthoma (Clic here for more details about this article) |
8/24. Continuous flow plasma exchange in the treatment of homozygous familial hypercholesterolemia.We report the clinical and laboratory effects of continuous-flow plasma exchange in two patients suffering from homozygous familial hypercholesterolemia. In one (Case 1) plasmapheresis was performed at fortnightly intervals over a period of 18 months; in the other (Case 2) the necessity for surgical relief of an associated supravalvular aortic stenosis resulted in premature termination of the trial. The plasma cholesterol levels in both patients fell by 35 per cent from the mean before study in the course of treatment. In Case 1 this was associated with marked regression of the patient's xanthomas, disappearance of the S-T segment depression seen on effort electrocardiograms obtained prior to the introduction of plasmapheresis, possible widening of the stenosis present at the origin of the left anterior descending coronary artery, and a marked increase in exercise tolerance and diminished frequency of anginal attacks. Cessation of cholestyramine and clofibrate administration during this study did not in any way reverse the reduction of plasma cholesterol achieved by means of plasmapheresis combined with drug therapy. We conclude that plasmapheresis has a role to play in the management of patients with homozygous familial hypercholesterolemia.- - - - - - - - - - ranking = 0.5keywords = xanthoma (Clic here for more details about this article) |
9/24. Cholesterotic fibrous histiocytoma. Its association with hyperlipoproteinemia.A 63-year-old woman with fibrous histiocytomas showed cholesterol deposition in the setting of type IIB hyperlipidemia. The two lesions involved the left leg and right thigh. One had typical features of a fibrous histiocytoma including changes of the overlying epidermis. The other was essentially replaced by cholesterol deposits and could not be differentiated from a tuberous xanthoma. This case illustrates the histiocytic response of fibrous histiocytomas to a hyperlipoproteinemic microenvironment.- - - - - - - - - - ranking = 0.5keywords = xanthoma (Clic here for more details about this article) |
10/24. Response to diet and cholestyramine in a patient with sitosterolemia.In this report, an 11-year-old boy with diffuse tendinous and tuberous xanthomatosis and a plasma sterol concentration of 555 mg/dL, consisting primarily of cholesterol, is described. Three months after changing from an unrestricted diet to a cholesterol-lowering diet, his plasma sterol concentration decreased to 221 mg/dL. Because of the degree and rapidity of his response to diet, sitosterolemia was suspected. According to results of capillary gas-liquid chromatography of his plasma sterols, there was a sitosterol concentration of 31.3 mg/dL (normal less than 1.0 mg/dL), establishing the diagnosis of sitosterolemia. Addition of cholestyramine therapy (8 g/d) to a low sterol diet further lowered his plasma sterol concentration to 173 mg/dL and led to complete regression of all tuberous xanthomata. Tendinous xanthomata regressed at a slower rate. These findings show that the diagnosis of sitosterolemia should be suspected in severely hypercholesterolemic children (total cholesterol greater than 400 mg/dL) whose plasma cholesterol level is highly responsive to dietary manipulation. The rapid and sustained lowering of plasma cholesterol and regression of xanthomata after treatment with diet and cholestyramine suggest that sitosterolemia is a treatable cause of premature atherosclerosis.- - - - - - - - - - ranking = 2keywords = xanthoma (Clic here for more details about this article) |
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