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Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum. [PDF]
Transl Vis Sci TechnolSehgal A, Milman T, Li Q, Pulido JS.
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Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle. [PDF]
Am J Ophthalmol Case RepLee KE +5 more
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Pseudoxanthoma Elasticum, Ocular Manifestations, Complications and Treatment
Australasian journal of optometry, The, 2011 Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and fragmentation of elastic fibres in a number of organs including the skin, eyes and arterial blood vessels.
Ilias Georgalas +2 more
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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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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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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
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