Cases reported "Pseudoxanthoma Elasticum"

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1/9. pseudoxanthoma elasticum and calcinosis cutis.

    A 42-year-old white woman presented with clinical and histologic manifestations of both calcinosis cutis and pseudoxanthoma elasticum: discrete milia-like calcifications at the anterior aspect of the neck, a funduscopic examination with classic eye findings, peripheral vascular disease, and a mottled appearance of the skin at the axillae, groin, and lateral aspects of the neck. A younger sibling had similar skin lesions and deteriorating visual acuity. The patient was normocalcemic and normophosphatemic. This case may represent the coincidental occurrence of two rare entities in the same person or may be suggestive of a pattern of dystrophic calcification associated with pseudoxanthoma elasticum.
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keywords = vascular disease
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2/9. pseudoxanthoma elasticum diagnosed 25 years after the onset of cardiovascular disease.

    A 63-year-old man who had experienced cerebral infarction and myocardial infarction at an early age, and repeatedly underwent coronary angioplasty was admitted to our hospital for cardiac evaluation. A coronary angiography showed complex multi-vessel disease with significant stenosis in all major vessels and coronary-artery bypass grafts. A funduscopic examination to evaluate hypertensive and diabetic changes revealed angioid streaks. Therefore, a skin biopsy was performed despite the absence of characteristic skin lesions. Histopathologic examinations revealed calcification and fragmentation of elastic fibers. Therefore, he was finally diagnosed as having pseudoxanthoma elasticum 25 years after the onset of cardiovascular disease.
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ranking = 5
keywords = vascular disease
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3/9. pseudoxanthoma elasticum with carotid rete mirabile.

    We describe a case of pseudoxanthoma elasticum (PXE) in a 14-year-old girl. This case is especially rare because of its association with carotid rete mirabile (CRM). Only three cases have been reported previously in the literature. Although the relation between P. elasticum and carotid rete mirabile is unclear, both disorders are believed to be major risk factors for cerebrovascular disease.
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4/9. pseudoxanthoma elasticum presenting with myocardial infarction.

    A 31 year old man presented with an anterior myocardial infarction. He had a history of recurrent gastrointestinal bleeding of obscure cause since childhood and peripheral vascular disease. A clinical diagnosis of the type 1 dominant form of pseudoxanthoma elasticum was supported by histological data from skin biopsy.
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keywords = vascular disease
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5/9. Peripheral vascular disease as a mode of presentation of pseudoxanthoma elasticum.

    Two men presenting with premature peripheral vascular disease and minimal risk for atherosclerosis were found to have pseudoxanthoma elasticum (PXE). fluorescein angiography was found to be of potential value in the early recognition of angioid streaks and pseudoxanthoma elasticum. There was evidence of disruption of arterial elastic tissue which may contribute to atherogenesis in PXE. Management is presently limited largely to minimizing risk factors for atherosclerotic vascular disease.
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ranking = 6
keywords = vascular disease
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6/9. An intracranial arteriovenous malformation and palatal myoclonus related to pseudoxanthoma elasticum.

    pseudoxanthoma elasticum is a rare hereditary disorder of elastic tissue with central nervous system manifestations due to occlusive vascular disease and aneurysm formation. Here we report the first recorded case of an intracranial arteriovenous malformation (AVM) in a patient with pseudoxanthoma elasticum. The AVM, which was located in the pons, also had an unusual manifestation, namely palatal myoclonus.
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keywords = vascular disease
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7/9. pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding.

    pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder. The main clinical features of this condition are characteristic skin lesions, angioid streaks of the fundus oculi, and occlusive vascular disease. Gastric hemorrhage is a rare complication. A gastroscopic examination was performed on two patients with PXE who presented with upper gastrointestinal tract bleeding. The two patients had submucosal yellowish nodular lesions similar to the xanthoma-like skin lesions seen in the disease. We suggest that a diagnosis of PXE be considered for any patient with gastrointestinal hemorrhage, especially if routine clinical and endoscopic examination fail to reveal the cause, and if raised yellow plaque-like lesions are seen in the stomach by endoscopy.
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8/9. pseudoxanthoma elasticum and its complications: two case reports.

    We describe 2 patients with pseudoxanthoma elasticum (PXE) and angioid streaks. In one patient PXE was complicated by cardiovascular disease. The other patient presented with acute visual decline in one eye after a minor blunt injury. Information about PXE and its complications is given.
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keywords = vascular disease
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9/9. New report of severe coronary artery disease in an eighteen-year-old girl with pseudoxanthoma elasticum. Case report and review of the literature.

    An eighteen-year-old woman with pseudoxanthoma elasticum (PXE) suffered from mild angina pectoris over a ten-year period. Severe triple-vessel disease with mild left ventricular dysfunction was demonstrated on angiography. No revascularization was feasible. Despite a reported high frequency of angina pectoris among patients with PXE, only 10 convincing reports have appeared in the literature. Careful coronary artery evaluation is required in young patients with PXE, even though asymptomatic, because coronary artery disease (CAD) seems to be frequent and because no precise feature can be distinguished between types with or without severe vascular disease. Through very rare reports, surgical revascularization appears feasible and beneficial in a less severe form of CAD in patients with PXE. The risk of premature and severe diffuse CAD in PXE does not seem to be explained only by the combination of increased Lp [a] (or any other risk factor) and PXE.
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