Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the...

an unmonitored case of EDS, a correct diagnosis is important. Pseudoxanthoma elasticum is worth consideration in diagnosis. No cure for Ehlers–Danlos...

Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others. Its frequency is almost...

in the HGO gene and homogentisate 1,2-dioxygenase deficiency. Pseudoxanthoma elasticum - rare multisystem disease marked by gradual calcification and...

d'orange include chronic processes such as cellulite, infection, pseudoxanthoma elasticum, inflammatory breast cancer, and Graves' dermopathy. Peau d'orange...

atherosclerosis, Buschke–Ollendorff syndrome, Menkes syndrome, pseudoxanthoma elasticum, and Williams syndrome. Elastosis is the buildup of elastin in...

type I, Marfan syndrome, multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditary hemorrhagic telangiectasia and Ehlers-Danlos syndrome...

affected individuals. Buschke–Ollendorff syndrome, Menkes disease, pseudoxanthoma elasticum, and Marfan's syndrome have been associated with defects in copper...

in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum". Molecular Genetics and Metabolism. 103 (1): 44–50. doi:10.1016/j...

pseudoxanthoma elasticum, perforating periumbilical calcific elastosis, periumbilical perforating pseudoxanthoma elasticum) Pseudoxanthoma elasticum...

paraffin-associated granuloma Genetic conditions; Williams syndrome, pseudoxanthoma elasticum, CYP24A1 mutation (adult / infantile), SLC34A1 mutation Miscellaneous;...

imperfecta type 1, autosomal dominant polycystic kidney disease and pseudoxanthoma elasticum, α1 antitrypsin deficiency and hereditary hemochromatosis, but...

an age-related degenerative process. However, it can occur in pseudoxanthoma elasticum and idiopathic arterial calcification of infancy as a pathological...

Ehlers-Danlos syndrome, autosomal dominant polycystic kidney disease, pseudoxanthoma elasticum, fibromuscular dysplasia, and osteogenesis imperfecta type I. IgG4-related...

co-founded PXE International when her children were diagnosed with pseudoxanthoma elasticum (PXE) in 1994. Her TEDMED talk from 2017 has been viewed more than...

Lebwohl was the first to report the cardiac complications of pseudoxanthoma elasticum, and, additionally, he has developed new techniques for diagnosing...

an additional stress occurs. "Forme fruste pseudoxanthoma elasticum", a variant of pseudoxanthoma elasticum with limited symptoms. Cryptogenic Diagnosis...

Takayasu's arteritis, Ehlers-Danlos syndrome, Marfan's syndrome, pseudoxanthoma elasticum, and Kawasaki's disease, and radiation induced arteritis. The chronic...

dominant Proximal 18q deletion syndrome 18q D Pseudo-Gaucher disease Pseudoxanthoma elasticum ABCC6 recessive 1:25,000 Retinitis pigmentosa RP1, RP2, RPGR, PRPH2...

S2CID 10058067. Meloni I, Rubegni P, De Aloe G, et al. (2001). "Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including...

contributor to uptake of Pt-based anti-cancer drugs in cells (49). Pseudoxanthoma elasticum, an inborn error of calcification due to absence of MRP6 (ABCC6)...

Preboot Execution Environment, booting computers via a network Pseudoxanthoma elasticum, a genetic disease Proof and Experimental Establishment, an Indian...

involved in multidrug resistance. Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account...

identification of restriction fragment length polymorphisms and linkage analyses in families with pseudoxanthoma elasticum Doctoral advisor Charles D. Boyd...

loss of central vision – wet age related macular degeneration. Pseudoxanthoma elasticum, myopia and trauma can also cause defects in Bruch's membrane which...

perforating dermatosis Perforating periumbilical calcific elastosis Pseudoxanthoma elasticum Vimentin Non-specific mesenchymal components Melanoma Glomus tumor...

De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues"...

laxa (Gerodermia osteodysplastica) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis/ keratinopathy Other cadherin...

MeSH C17.800.804.675 – port-wine stain MeSH C17.800.804.766 – pseudoxanthoma elasticum MeSH C17.800.804.775 – Rothmund–Thomson syndrome MeSH C17.800.804...

strongly associated with AAA. Both relapsing polychondritis and pseudoxanthoma elasticum may cause abdominal aortic aneurysm. Atherosclerosis: The AAA was...