Results 21 to 30 of about 8,705 (254)
Dermatology Online Journal, 2009 Pseudoxanthoma elasticum is an incurable, autosomal-recessive, genetic disorder that is caused by mutations in the ABCC6 gene. It is characterized by progressive mineralization and fragmentation of the elastic fibers in the skin, retina, and blood vessels.
Gonzalez, Mercedes E +3 more
openaire +8 more sources
International Journal of Molecular Sciences, 2022 Arterial calcification is a common feature of pseudoxanthoma elasticum (PXE), a disease characterized by ABCC6 mutations, inducing a deficiency in pyrophosphate, a key inhibitor of calcium phosphate crystallization in arteries.
Elise Bouderlique +10 more
semanticscholar +1 more source
Late-onset focal dermal elastosis: report of a case and review of the literature
Dermatology Reports, 2022 Late-onset focal dermal elastosis is a rare cutaneous condition classified within the disorders of increased dermal elastic tissue. It is characterized clinically by multiple papules with predilection for the neck and other flexures, without systemic ...
Fabrizio Fantini +2 more
doaj +1 more source
Journal of Clinical Medicine, 2022 Pseudoxanthoma elasticum (PXE) is a currently intractable genetic disorder characterized by progressive ectopic calcification in the skin, eyes and arteries. Therapeutic trials in PXE are severely hampered by the lack of reliable biomarkers.
L. Nollet +11 more
semanticscholar +1 more source
Pseudoxanthoma elasticum: report of two cases [PDF]
Anais Brasileiros de Dermatologia, 2014 Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system.
Gabriela Franco Marques +4 more
doaj +2 more sources
Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum.
Journal of Investigative Dermatology, 2022 Pseudoxanthoma elasticum (PXE) is a heritable ectopic calcification disorder with multi-organ clinical manifestations. The gene at default, ABCC6, encodes an efflux transporter, ABCC6, which is a new player regulating the homeostasis of inorganic ...
Jianhe Huang +5 more
semanticscholar +1 more source
Cutaneous polyarteritis nodosa and concurrent pseudoxanthoma elasticum–like phenotype: A case report
SAGE Open Medical Case Reports, 2020 We report a unique case of a patient presenting with histologically confirmed pseudoxanthoma elasticum–like phenotype and cutaneous polyarteritis nodosa. Cardiac, gastroenterological, and ophthalmologic evaluations were within normal limits.
Roxana Mititelu +2 more
doaj +1 more source
Human Mutation, 2022 ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic calcification disorder.
F. Szeri +15 more
semanticscholar +1 more source
Mouse models for pseudoxanthoma elasticum: Genetic and dietary modulation of the ectopic mineralization phenotypes [PDF]
, 2014 Pseudoxanthoma elasticum (PXE), a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene. Null mice ( Abcc6 -/-) recapitulate the genetic, histopathologic and ultrastructural features of PXE, and they demonstrate early and ...
A Berndt +27 more
core +6 more sources
Anti-VEGF-therapy for pseudoxanthoma elasticum (case reports) [PDF]
Клиническая офтальмология, 2023 A.D. Chuprov, S.M. Kim, E.A. Pidodniy, A.M. Iserkepova Orenburg Branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Orenburg, Russian Federation Pseudoxanthoma elasticum (PXE), also known as Gröenblad-Strandberg syndrome,
A.D. Chuprov +3 more
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