Results 21 to 30 of about 2,584 (187)

Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report. [PDF]

J Clin Hypertens (Greenwich)
ABSTRACT Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized.
Flogelova H, Pospisilova D, Bakaj-Zbrozkova L, Sochorcova L, Manakova J, Kriegova E, Koralkova P, Hlusickova Kapralova K, Horvathova M.   +8 more
europepmc   +2 more sources

Arterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE) [PDF]

Vascular Medicine
Wilko Spiering, Pim A de Jong
exaly   +2 more sources

Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

International Journal of Dermatology and Venerology, 2020
. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and ...
Douglas Ralph, Rina Allawh, Ian F. Terry, Sharon F. Terry, Jouni Uitto, Qiao-Li Li   +5 more
doaj   +1 more source

Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) in an Elderly Female: A Rare Diagnostic Entity [PDF]

Clinical, Cosmetic and Investigational Dermatology
Alshehri N, Alsergani R, Alqerafi A, Al Harbi SM, Alhumidi A, Alfada MA.   +5 more
exaly   +2 more sources

Statins as a Therapeutic Approach for the Treatment of Pseudoxanthoma Elasticum Patients: Evaluation of the Spectrum Efficacy of Atorvastatin In Vitro

Cells, 2021
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by mutations in the ATP-binding cassette sub-family C member 6 gene. Our previous studies revealed that PXE might be associated with premature aging.
Janina Tiemann, Christopher Lindenkamp, Ricarda Plümers, Isabel Faust, Cornelius Knabbe, Doris Hendig   +5 more
doaj   +1 more source

TPCM-based trusted PXE boot method for servers

网络与信息安全学报, 2020
The PXE startup mechanism downloads operating system files through the network and starts the operating system,which is widely used in server network startup.It is widely used in server network startup.The PXE boot process is secured and trusted through ...
Guojie LIU, Jianbiao ZHANG
doaj   +3 more sources

Skin lesions over the neck with vision loss: Pseudoxanthoma elasticum with angioid streaks

TNOA Journal of Ophthalmic Science and Research, 2020
Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder characterized by the involvement of skin, cardiovascular system, and the eyes. Angioid streaks (AS) are the most common ophthalmoscopic finding in PXE.
Gauri Khare, Chitaranjan Mishra, Naresh Babu Kannan   +2 more
doaj   +1 more source

Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 46, Issue 10, Page 1676-1679, September 2026.
Tekesin I, Kerst G, Chiaie LD, Dinwiddie A, Gabriel H.   +4 more
europepmc   +2 more sources

New insights into the pathogenesis of Pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers

Frontiers in Genetics, 2013
Screening of the ATP binding cassette transporter protein subfamily C member 6 gene (ABCC6) in Pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%.
Doris eHendig, Cornelius eKnabbe, Christian eGötting   +2 more
doaj   +1 more source

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, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer   +11 more
doaj   +1 more source