Results 31 to 40 of about 6,809 (242)
Journal of Clinical Medicine, 2022 Pseudoxanthoma elasticum (PXE; OMIM 264800) is an autosomal recessive metabolic disorder characterized by progressive calcification in the skin, the Bruch’s membrane, and the vasculature.
G. Leftheriotis +8 more
semanticscholar +1 more source
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 [PDF]
Medical Journal Armed Forces India, 2008 We report a case of pseudoxanthoma elasticum in a 44-year-old Afro-Caribbean woman who presented with excessive wrinkling and loosening of the skin of the neck. She was treated by platysmoplasty and bilateral neck lift followed by latent excision of nuchal skin folds.
S, Arora +3 more
openaire +4 more sources
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
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
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
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum
Experimental Dermatology, 2021 Pseudoxanthoma elasticum (PXE; OMIM 264800) is a rare heritable multisystem disorder, characterized by ectopic mineralization affecting elastic fibres in the skin, eyes and the cardiovascular system.
E. Kozák +10 more
semanticscholar +1 more source