1/11. Surgical excision of the tendon xanthoma in familial hypercholesterolemia--a case report.Familial hypercholesterolemia is an autosomal dominant disorder characterized by increased low-density lipoprotein cholesterol, premature atherosclerosis and tendon xanthomas. Genetic studies reveal familial hypercholesterolemia to be a dysfunction of LDL receptor gene on cell surface. Recently various mutations in the LDL receptor gene have been reported. When dna method is not available, the occurrence of tendon xanthomas, an isolated elevation of plasma cholesterol, with a normal concentration of plasma triglycerides virtually establishes the diagnosis of familial hypercholesterolemia. In this report, a 42-year-old male had tendon xanthoma at extensor surface of metacarpophalangeal joint of his right hand, olecranon of the left elbow and both knees, and Achilles tendons. The tendon xanthoma was excised for cosmetic reasons, and the wound healing was slower than average in this case. We suggest that before suture removal, wound healing must be complete. It is important that the hand surgeon recognize that tendon xanthoma is a physical sign of a potentially life-threatening disorder to the patient as well as his family, and that this disorder may respond favorably to early examination and management.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/11. Verruciform xanthoma of the esophagus.Verruciform xanthoma is a distinctive lesion of oral mucosa and genital skin. It can be solitary or multifocal, as well as sporadic or associated with inflammatory, autoimmune, immunodeficient, metabolic, neoplastic, or congenital diseases. To our knowledge, it has not yet been described in the esophagus. The case of a 61-year-old man suffering from primary non-Hodgkin lymphoma of the testis is presented. Two years after initial diagnosis, mediastinal adenopathies were disclosed. Fractioned radiotherapy was administered; 3 years later, verruciform xanthoma of middle third of the esophagus was endoscopically resected. Histologically, the lesion showed acanthotic squamous mucosa infiltrated by neutrophils. Papillae were packed with foam cells that were positive for CD68 and vimentin antibodies. Verruciform xanthoma is a condition observed exclusively in squamous epithelia. From our viewpoint, physical agents play a preponderant role in the etiology, although viral agents may occasionally be involved in the development of this enigmatic lesion.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/11. Pinpoint skin lesions in a familial hypercholesterolaemia homozygote.The case is reported of a 2-y-old girl referred to the outpatient lipid clinic because of a tiny cutaneous xanthoma on the dorsum of the left foot and a family history of hyperlipidaemia and coronary heart disease (CHD). fasting serum total cholesterol levels were remarkably high (27.1 mmol l(-1), 1050 mg dl(-1)) and dna analysis confirmed homozygous familial hypercholesterolaemia (class II mutation). serum lipids were not affected by dietary intervention and cholestyramine treatment, so low-density lipoprotein apheresis was scheduled to commence at the age of 4 y. Conclusion: An early lipid profile determination should be performed in children with a family history of premature CHD, since the physical examination may be unremarkable even in cases of severe hyperlipidaemia during the first years of life.- - - - - - - - - - ranking = 8.9516404221791keywords = physical examination, physical (Clic here for more details about this article) |
4/11. Regression of achilles tendon xanthomas evaluated by CT scan after hypolipidemic treatment with simvastatin. A case report.Familial hypercholesterolemia (FH) is a relatively common autosomal monogenic disease with dominant inheritance and threefold to fourfold increase in relative risk of cardiovascular death in untreated patients. For a "definitive" clinical diagnosis of FH the Simon Broome Register proposes the presence of tendon xanthomas as a key feature. However, detection of tendon xanthomas by physical examination is subjective and difficult to use for follow-up purposes. Several instrumental methods have been reported to be more sensitive than physical examination for the evaluation of xanthomas. The present case illustrates the usefulness of computed tomography (CT) to detect xanthomas in the Achilles tendons (XAT) and their regression in response to hypolipidemic drug treatment in a heterozygous FH patient. As XAT are atherosclerotic plaque-like depositions of lipids it is likely that their progression or regression follows the behavior of vascular atherosclerotic lesions.- - - - - - - - - - ranking = 17.903280844358keywords = physical examination, physical (Clic here for more details about this article) |
5/11. A case of familial hypercholesterolemia; secession from LDL-apheresis by the drug treatment with potent statin and resin.Low density lipoprotein (LDL)-apheresis is a useful tool for the treatment of familial hypercholesterolemia (FH) with coronary artery disease (CAD). However, it gives economic, physical and mental burdens for the patients. We reports a case of FH in whom LDL-apheresis treatment was seceded with drug treatment with a potent statin and bile acid-sequestering resin. A 54-year-old woman was admitted for evaluation of atherosclerotic lesion after 4 years of LDL-apheresis and 1 year of drug medication with a potent statin, atorvastatin and resin, cholestimide with coronary angiography. She had been diagnosed as heterozygous FH when she was 46 years old. Oral medication was initiated at the outpatient clinic. LDL-cholesterol (C) level was not successfully controlled despite the administration of a statin, pravastatin, a fibrate, clinofibrate and probucol at maximum doses Concomitantly. Therefore, as combination therapy, LDL-apheresis was introduced in May 1997. However, the patient strongly complained of the economic, physical, and mental burdens of LDL-apheresis and requested discontinuation of apheresis. Therefore, LDL-apheresis was discontinued in July 2000, and oral medication was subsequently changed to a combination of atorvastatin and cholestimide, resulting in successful control of serum LDL-C level by oral medication alone. We compared coronary arteriographic findings between 1997 and 2001. No advancement of lesions was observed. We think that strong drug treatment can secede from the LDL-apheresis for treatment of patients with FH.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
6/11. Unmasking of type III hyperlipoproteinemia by hypothyroidism: a dramatic illustration of altered lipoprotein metabolism in a postpartum woman.OBJECTIVE: To illustrate the potential abnormalities in lipoprotein metabolism associated with type III hyper-lipoproteinemia and the modulation of their clinical expression by thyroid hormone and estrogenic status. methods: An illustrative case, with associated clinical and laboratory data, is presented, and relevant clinical and pathophysiologic studies from the literature are reviewed. RESULTS: A 35-year-old woman, at 7 months after delivery of her first child, presented to her family physician with a complaint of painful eruptions on the palms of her hands. On evaluation, she was found to have new hypothyroidism and severe hypertriglyceridemia (>1,569 mg/dL). thyroxine replacement was initiated, and she was referred to the lipid clinic. When seen in the lipid clinic shortly thereafter, her triglyceride level had normalized, but her low-density lipoprotein (LDL) fraction was strikingly elevated (representing a combination of elevated intermediate-density lipoprotein and LDL cholesterol). On physical examination, palmar xanthomas were noted, suggestive of type III hyperlipoproteinemia. This diagnosis was further supported by homozygosity at the apolipoprotein E (apo E) gene locus for the apo E2 allele implicated in this condition. Ultimately, with attainment of euthyroidism in the subsequent weeks, the lipid profile normalized, with the LDL cholesterol concentration particularly reduced at 55 mg/dL. CONCLUSION: Clinical expression of type III hyperlipoproteinemia necessitates interaction between an underlying genetic defect of lipoprotein metabolism (apo E2 homozygosity) and a secondary metabolic insult such as, in the current case, hypothyroidism and possibly breast-feeding-mediated hypoestrogenemia. As such, in patients with type III hyperlipoproteinemia, it is essential to search for exacerbating factors, particularly because the amelioration of such factors may rectify the effects of the underlying dyslipidemia.- - - - - - - - - - ranking = 8.9516404221791keywords = physical examination, physical (Clic here for more details about this article) |
7/11. A 47-year-old man with eruptions on his trunk.A 47-year-old white male came to the hospital emergency department complaining of chest pain. At admission, it was noted that the patient had numerous lesions on his buttocks, abdomen, back, and all extremities. These lesions had been there for approximately 5 months--they developed after he discontinued his cholesterol medication due to lapsed insurance coverage. He had a similar eruption when he went off cholesterol medication on another occasion. The patient's medical history included type 2 diabetes mellitus, hypertension, coronary artery disease, and hyperlipidemia. He has had multiple heart catheterizations with stent placement, most recently 2 years ago. His mother also had diabetes mellitus, and she died at age 58 from a myocardial infarction. On examination, his lesions were painless and nonpruritic. He had numerous yellow papules on his buttocks, abdomen, back, and upper and lower extremities. He had no lesions on his face. The rest of the physical exam showed no abnormal results. What is your diagnosis? What laboratory tests should be done to help make the diagnosis?- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/11. Tendon xanthoma: a physical manifestation of hyperlipidemia.Tendon xanthoma, a nonneoplastic tumor of tendon is a significant physical manifestation of hyperlipidemia. These lesions may accompany rapidly progressive atherosclerosis and may signal the presence of life threatening hyperlipidemia. We have seen three patients with tendon xanthoma, and one patient was treated by surgical excision of large xanthomas arising from the substance of the extensor tendons over the metacarpophalangeal (MP) joints of the hand. Because these lesions arise from the substance of the extensor tendons complete removal may result in loss of tendon continuity and function. Surgery in the form of subtotal excision is advised for functional or cosmetic reasons. Although incomplete removal may be associated with recurrence, appropriate medical management may prevent or delay this recurrence.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |
9/11. Xanthogranulomatous pseudotumor of the vagina: evidence of a local response to an unusual bacterium (mucoid escherichia coli).Utilization of nonconventional bacterial strains and electron microscopy occasionally may aid in the recognition of unusual microorganisms which fail to be demonstrated by more conventional bacterial stains. We report an unusual case of recurrent vaginal polyps, initially thought by physical examination to represent a malignant neoplasm and histologically to represent a granular cell tumor. The lesions were comprised microscopically of sheets of large, polygonal, histiocytic-like cells with abundant eosinophilic granular cytoplasm. With the Dieterle silver stain, the cytoplasm of these cells contained large numbers of intracellular rod-shaped bacilliform bodies thought to be microorganisms. These organisms stained not at all or very poorly with more conventional bacterial stains, such as Gram and Giemsa stains. Electron microscopy was employed to confirm the presence of intra- and extracellular bacilliform bodies and the absence of large numbers of cytosegresomes, the latter characteristically seen in typical granular cell tumors. Cultures of tissue from the biopsy documented a pure strain of a mucoid form of escherichia coli. We were unable to identify any prior report describing a similar recurrent inflammatory vaginal lesion in which mucoid E. coli was demonstrated. We discuss possible pathogenesis of this case, and relate it to morphologically similar diseases, such as Whipple's disease and malakoplakia, in which there appears to be defective clearance of bacteria from a variety of tissues.- - - - - - - - - - ranking = 8.9516404221791keywords = physical examination, physical (Clic here for more details about this article) |
10/11. Xanthoma disseminatum: an unusual cause of facial and limb deformity.A rare case of xanthoma disseminatum producing deformity of the head, neck, and extremities is reported. This pathologically benign disease, considered to represent one of the histiocyte proliferative disorders, is manifested by numerous cutaneous xanthomas primarily in flexion areas. Progressive enlargement of these lesions accompanied by marked fibrosis has produced the severe cosmetic and functional deformities described in this patient. Treatment in this case involved excision of xanthomatous contraction bands with split-thickness skin grafting, followed by intensive physical therapy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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