Results 211 to 220 of about 8,705 (254)
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Acta Clinica Belgica, 2000
An 64-year-old woman had pseudoxanthoma elasticum (PXE) with the characteristic skin and oculair findings. She had no associated systemic systems and no family history of PXE. The case-report is reviewed with regard to etiology, clinical features, diagnosis, inheritance and, particularly, management.
I, Vanslembrouck, M, Schurgers
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An 64-year-old woman had pseudoxanthoma elasticum (PXE) with the characteristic skin and oculair findings. She had no associated systemic systems and no family history of PXE. The case-report is reviewed with regard to etiology, clinical features, diagnosis, inheritance and, particularly, management.
I, Vanslembrouck, M, Schurgers
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The Journal of Dermatology, 2002
AbstractPseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP‐binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still
Toshio, Ohtani, Fukumi, Furukawa
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AbstractPseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP‐binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still
Toshio, Ohtani, Fukumi, Furukawa
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Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.
American journal of ophthalmology-glaucoma, 2020PURPOSE To describe patients with late-onset Pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. DESIGN Retrospective observational case series.
P. Charbel Issa, C. Tysoe, R. Caswell
semanticscholar +1 more source
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
Journal of Internal Medicine, 2020Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as ...
A. Legrand +25 more
semanticscholar +1 more source
2015
Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. The deterioration of elastic fibers leads to characteristic yellowish papules and plaques (pseudoxanthomas) and retinal angioid streaks. Although these findings may begin in childhood, the diagnosis is typically not made until the second or third decade ...
E Steve, Roach, Monica P, Islam
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Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. The deterioration of elastic fibers leads to characteristic yellowish papules and plaques (pseudoxanthomas) and retinal angioid streaks. Although these findings may begin in childhood, the diagnosis is typically not made until the second or third decade ...
E Steve, Roach, Monica P, Islam
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IMPAIRED DARK ADAPTATION ASSOCIATED WITH A DISEASED BRUCH MEMBRANE IN PSEUDOXANTHOMA ELASTICUM.
Retina, 2019PURPOSE To characterize dark adaptation in patients with pseudoxanthoma elasticum, a systemic disease leading to calcification of elastic tissue including the Bruch membrane.
Kristina Hess +8 more
semanticscholar +1 more source
VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM.
Retina, 2019PURPOSE To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality and similar data of late age-related macular degeneration patients.
S. Risseeuw +5 more
semanticscholar +1 more source
Ugeskrift for laeger, 2010
During childhood two women developed yellowish xanthoma-like papules on the neck. After dermatological examination and skin biopsy, the diagnosis pseudoxanthoma elasticum (PXE) was made. PXE is a hereditary metabolic disease which has an early onset with characteristic skin lesions.
List-Jensen, Kamille +2 more
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During childhood two women developed yellowish xanthoma-like papules on the neck. After dermatological examination and skin biopsy, the diagnosis pseudoxanthoma elasticum (PXE) was made. PXE is a hereditary metabolic disease which has an early onset with characteristic skin lesions.
List-Jensen, Kamille +2 more
openaire +2 more sources