Pseudoxanthoma Elasticum and Light-Chain Amyloidosis
European Journal of Inflammation, 2012 Pseudoxanthoma elasticum is a heritable disorder of connective tissue characterized by cutaneous, vascular and ocular changes that result from the accumulation of fragmented elastic fibres.
M. Carlesimo +8 more
doaj +1 more source
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum [PDF]
, 2014 BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragmentation of elastic fibres in the ...
Coucke, Paul +4 more
core +3 more sources
Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. [PDF]
PLoS ONE, 2016 BACKGROUND:Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So
Simon Pingel +11 more
doaj +1 more source
Pseudoxanthoma Elasticum Papillary Dermal Elastolysis: A Case Report
Dermatology Research and Practice, 2010 PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It
Rubina Alves +3 more
doaj +1 more source
Ultrastructural aspects of pseudoxanthoma elasticum [PDF]
Anais Brasileiros de Dermatologia, 2017 : We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities.
Hiram Larangeira de Almeida Jr. +3 more
doaj +1 more source
ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation—Brief Report [PDF]
, 2014 OBJECTIVE: Mutations in ABCC6 underlie the ectopic mineralization disorder pseudoxanthoma elasticum (PXE) and some forms of generalized arterial calcification of infancy, both of which affect the cardiovascular system.
Duijst, S. +5 more
core +1 more source
Ophthalmologic manifestations of pseudoxanthoma elasticum
Oman Journal of Ophthalmology, 2018 Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
Khrifi Zineb
doaj +1 more source
Pseudoxanthoma Elasticum: Report of Two Cases
Case Reports in Dermatology, 2021 Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of ...
Israel Antonio Esquivel-Pinto +4 more
doaj +1 more source
Fibroblast involvement in soft connective tissue calcification [PDF]
, 2013 Soft connective tissue calcification is not a passive process, but the consequence of metabolic changes of local mesenchymal cells that, depending on both genetic and environmental factors, alter the balance between pro- and anti-calcifying pathways ...
ANNOVI, Giulia +4 more
core +1 more source
Fibroblasts from patients affected by Pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli [PDF]
, 2014 BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by progressive calcification of soft connective tissues. The pathogenesis is still hard to pin down.
ANNOVI, Giulia +3 more
core +1 more source