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Advances in Pseudoxanthoma Elasticum
罕见病研究, 2023 Pseudoxanthoma elasticum(PXE) is a rare, genetic, metabolic disease characterized by ectopic calcification of connective tissue that primarily affects the skin, retina and cardiovascular system, which characteristic histopathology is calcification and ...
WANG Huifen, ZHAI Zhifang
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Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives
Biomedicines, 2021 Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset ...
M. J. Stumpf +4 more
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Journal of Clinical Medicine, 2021 Background: Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular ...
F. Boraldi +6 more
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Journal of Investigative Dermatology, 2021 Pseudoxanthoma elasticum (PXE) is a hereditary ectopic calcification disorder affecting the skin, eyes and blood vessels. Recently, the DNA damage response (DDR), in particular poly(ADP-ribose) polymerase 1 (PARP1), was shown to be involved in aberrant ...
L. Nollet +4 more
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Diagnostics, 2021 Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications.
K. Farkas +13 more
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The complexity of visual dysfunction in patients with pseudoxanthoma elasticum
Eye, 2021 Pseudoxanthoma elasticum (PXE) is a multisystem disease characterized by calcification of elastic fibers. The eye is one of the most consistently and most severely affected organs, with vision loss being a major concern for PXE patients [1, 2].
P. Charbel Issa, Kristina Hess
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Pseudoxanthoma elasticum [PDF]
Archives of Disease in Childhood, 2005 Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable ...
S, Laube, C, Moss
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D-Penicillamine Induced Degenerative Dermopathy in a Patient with Wilson Disease
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2018 D-penicillamine induced degenerative dermatosis include, among others, elastosis perforans serpiginosa, and pseudo- -pseudoxanthoma elasticum. Elastosis perforans serpiginosa is a rare perforating disease characterized by transepidermal elimination of ...
Rui Pedro Santos +2 more
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PSEUDOXANTHOMA ELASTICUM [PDF]
Archives of Dermatology and Syphilology, 1921 n ...
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Pruritic periumbilical plaque as a presentation of a rare perforating dermatosis
Indian Dermatology Online Journal, 2020 Perforating dermatoses are characterized by transepidermal elimination of altered dermal components or foreign particles. Owing to their common clinical presentation as umbilicated papules with a keratotic plug, histopathology and special staining play a
Meghana Bathina +3 more
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