Cases reported "Pseudoxanthoma Elasticum"

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21/151. Coexisting pseudo-xanthoma elasticum and rheumatoid arthritis. three cases and review of the literature.

    Pseudo-xanthoma elasticum (PXE) is an inherited disorder of the connective tissue characterized by cutaneous, ocular and vascular lesions. Coexisting PXE and rheumatoid arthritis (RA) is rare because three cases have only been described. We report three new cases of this association. Analysis of these six cases failed to show any particular biological or clinical features of rheumatoid arthritis associated PXE. The possible association of PXE and RA is discussed. ( info)

22/151. pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene.

    pseudoxanthoma elasticum (PXE) is an inherited systemic disorder of connective tissue. We describe a patient with PXE who does not have mutations in exons 16, 24, 27, 28, and 30 of the MRP6 gene. ( info)

23/151. pseudoxanthoma elasticum: is the left internal mammary artery a suitable conduit for coronary artery bypass grafting?

    Coronary artery revascularization remains a feasible and beneficial treatment for coronary artery disease in patients with pseudoxanthoma elasticum. Careful angiographic evaluation of the left internal mammary artery and coronary arteries is required in patients with pseudoxanthoma elasticum with suspected coronary artery disease. A nonstenosed left internal mammary artery at angiography may be used as a conduit for coronary artery revascularization; however, both the effect of harvest and anastomosis on the disease process in the left internal mammary artery and the long-term patency of left internal mammary artery grafts remain unknown. ( info)

24/151. Formation of pannus on prosthetic valves in a child with pseudoxanthoma elasticum.

    A child with pseudoxanthoma elasticum had mitral valvar prolapse with severe regurgitation necessitating replacement with a prosthetic valve. Extensive formation of pannus caused obstruction of two mechanical valves, one after twenty months and the second after three years. histology of the pannus was similar to the endocardial lesions that are considered unique to pseudoxanthoma elasticum. ( info)

25/151. Involvement of central nervous system in pseudoxanthoma elasticum.

    A 24- year-old female with typical pseudoxanthoma elasticum of the skin, angioid streaks of the optic fundi and cardiovascular involvement developed neurasthenic symptoms, epilepsy, progressive mental deterioration and focal neurological deficits. cerebral angiography revealed marked generalized arteriosclerotic change and occlusion of the left internal carotid artery. The literature of pseudoxanthoma elasticum is reviewed with special reference to central nervous system (CNS) manifestations. The possible role of the involvement of cerebral arteries in the genesis of CNS manifectations is discussed. And the importance of neurasthenic syndrome as an initial sign, which suggests that CNS involvement has already started in this disease, is stressed. ( info)

26/151. Coexistence of pseudoxanthoma elasticum-like papillary dermal elastolysis and linear focal dermal elastosis.

    An 89-year-old Japanese woman had pseudoxanthoma elasticum-like papillary dermal elastolysis on the neck and linear focal elastosis on the flexor aspects of the legs and thighs. The lesions of both diseases had similar histologic patterns-loss of elastic fibers in the papillary dermis and accumulation of normal-appearing elastic fibers in the subpapillary or mid dermis. Immunohistochemical analysis showed elastin, and microfibril-associated proteins (fibrillin 1 and 2 and microfibril associated glycoprotein 1 and 4) were absent or decreased in the papillary dermis and present in the accumulated elastic fibers in both lesions. The association of 2 diseases on different areas of the same patient and histologic and immunohistologic similarities between the diseases suggest that, despite the clinical differences, both diseases are closely related. ( info)

27/151. pseudoxanthoma elasticum (PXE)-like calcification in adult dermatomyositis.

    A case of pseudoxanthoma elasticum (PXE)-like calcification in adult dermatomyositis (DM) is described. The patient was a 38-year-old woman with a history of dermatomyositis for 3 months. Yellowish, hard, papulo-plaque lesions, which looked like those of pseudoxanthoma elasticum, were noted on her left axilla. calcium deposition was confirmed by X-ray, histopathological, and electron microscopic examinations. Histopathological and histochemical examinations showed acicular calcium deposition in the middle and deep dermis surrounded by mucin. Electron microscopic examination revealed that the calcium deposition was not on collagen fibers. These morphological features were distinct from those of PXE. We proposed the possibility that degenerated mucin or degenerated elastic fiber might result in subsequent calcium deposition in reticular calcinosis in adult DM. The calcification clinically disappeared without any specific treatment except for prednisolone and cyclophosphamide. ( info)

28/151. Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family.

    BACKGROUND: We describe a Sicilian family in which optic disc drusen, angioid streaks, and mottled fundus--without dermatological signs of pseudoxanthoma elasticum (PXE)--are present in various combinations and segregate as an autosomal dominant trait. Since these ocular manifestations can be part of the clinical signs of PXE, we examined the possible involvement of a mutation in the ABCC6 gene, which is known to be responsible for PXE. methods: Linkage analysis was performed with both intragenic and flanking markers. We used marker D16B9722 and a single-nucleotide polymorphism located in exon 15 of the ABCC6 gene. lod score values were calculated on the assumption of a gene frequency of 0.0001 and both complete penetrance and reduced penetrance (90%), with theta values between 0.0 and 0.4. RESULTS: lod score values excluded the involvement of the ABCC6 gene. CONCLUSIONS: The dominant transmission of optic disc drusen, mottled fundus, and angioid streaks in this family is not due to alterations in the ABCC6 gene. ( info)

29/151. pseudoxanthoma elasticum with abnormal nailfold microcirculatory findings.

    pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue. Here we report a 34-year-old male patient who developed multiple symptomless yellowish papules over his neck for several months. He visited our dermatologic out-patient-clinic because his sister had similar skin lesions and mild visual impairment. The pathologic features of the skin biopsy showed fragmented calcified elastic fibers in the mid-to-lower dermis under the H&E, Verhoeff-van Gieson and Von Kossa stains. Under electron microscopy, calcified degenerated elastic fibers were noted. No other internal organ involvement was found except angioid streaks on the fundus. In addition, morphological changes of the nailfold capillaries, including increased tortuosity, dilated venous limbs of capillary loops, and decreased red-blood-cell velocity, were observed under the capillaroscopy. Though former reports have indicated that cardiovascular manifestations are caused by degeneration of elastic fibers of blood vessels, this study is the first to emphasize the microcirculatory disturbance of nailfold capillary, including morphology and blood-cell velocity, in PXE. ( info)

30/151. Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome.

    The coexistence of a pseudoxanthoma elasticum (PXE)-like syndrome in beta-thalassemia and other hemoglobinopathies is a recently established clinical entity that has been observed with a significant frequency and related to some severe, even life-threatening complications. We present here a thalassemia intermedia patient who developed unstable angina in a setting of severe anemia and PXE-related coronary arterial calcification. Besides the clinical significance of this PXE-like syndrome, its acquired nature may introduce some new thoughts regarding the pathogenesis of atherosclerosis. ( info)
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