Results 201 to 210 of about 6,809 (242)
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Clinical practice guidelines for pseudoxanthoma elasticum (2017)
Journal of dermatology (Print), 2022Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease that affects tissues such as the skin, retina, blood vessels, and gastrointestinal tracts. Therefore, comprehensive medical care across clinical departments specialized in specific organs
Akira Iwanaga +17 more
semanticscholar +1 more source
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
openaire +2 more sources
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
openaire +2 more sources
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
Pseudoxanthoma elasticum and nephrolithiasis
Journal of the European Academy of Dermatology and Venereology, 2005AbstractWe report the case of a 42‐year‐old man with pseudoxanthoma elasticum (PXE) and recurrent bilateral nephrolithiasis. Diagnosis of PXE was made by yellow papules on the neck and ophthalmologic angioid streaks. This diagnosis was confirmed by a skin biopsy (Von Kossa stain) and by genotyping analysis of ABCC6 (homozygous mutation R1138Q ...
B, Fabre +5 more
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
Clinical Genetics, 2020Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms.
Eva Y G De Vilder +8 more
semanticscholar +1 more source
Oligodontia in pseudoxanthoma elasticum
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2007Pseudoxanthoma elasticum (PXE) is an inherited disorder that has both autosomal recessive and autosomal dominant pathways and is characterized by severe malformation of elastic and collagen fibers. Clinically, 3 main groups of systemic findings involving skin, eye, and vessels emerge in the symptoms.
Sayin, M. Ozgur +4 more
openaire +4 more sources
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
openaire +2 more sources