2,021 results match your criteria Pseudoxanthoma Elasticum


Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.

J Am Heart Assoc 2021 Jun 22:e020919. Epub 2021 Jun 22.

Department of Regenerative Medicine and Cell Biology Medical University of South Carolina Charleston SC.

Mitral valve prolapse (MVP) is a commonly occurring heart condition defined by enlargement and superior displacement of the mitral valve leaflet(s) during systole. Although commonly seen as a standalone disorder, MVP has also been described in case reports and small studies of patients with various genetic syndromes. In this review, we analyzed the prevalence of MVP within syndromes where an association to MVP has previously been reported. Read More

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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Hum Genet 2021 Jun 20. Epub 2021 Jun 20.

Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.

Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover, several conditions with phenotypes overlapping Usher syndrome have been described. This makes the molecular diagnosis of hereditary deaf-blindness challenging. Read More

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Pseudoxanthoma elasticum with null cell adenoma of the pituitary gland: A case report with multimodal imaging study.

Kaohsiung J Med Sci 2021 Jun 4. Epub 2021 Jun 4.

Department of Ophthalmology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

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Pseudoxanthoma Elasticum: Report of Two Cases.

Case Rep Dermatol 2021 Jan-Apr;13(1):230-237. Epub 2021 Apr 19.

Dermatopathology Service, General Hospital "Dr. Manuel Gea González", Mexico City, Mexico.

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 skin, media, and intima of blood vessels and Bruch's membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. Read More

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Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.

J Genet Genomics 2021 Mar 25. Epub 2021 Mar 25.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. Electronic address:

Pseudogenes are frequently encountered noncoding sequences with a high sequence similarity to their protein-coding paralogue. For this reason, their presence is often considered troublesome in molecular diagnostics. In pseudoxanthoma elasticum (PXE), a disease predominantly caused by mutations in ATP-binding cassette family C member 6 (ABCC6), the presence of two pseudogenes complicates the analysis of sequence data. Read More

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Sudden onset of white fibrous papulosis of the neck and milia cysts on the neck of an elderly female patient.

J Cosmet Dermatol 2021 May 27. Epub 2021 May 27.

Department of Pathology, Okmeydanı Training and Research Hospital (Prof Dr Cemil Taşçıoğlu City Hospital, Istanbul, Turkey.

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Retinal crystalline lesions in pseudoxanthoma elasticum.

Can J Ophthalmol 2021 May 6. Epub 2021 May 6.

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ont.. Electronic address:

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An unusual presentation of eruptive syringomas on the neck.

Proc (Bayl Univ Med Cent) 2021 Jan 19;34(3):412-413. Epub 2021 Jan 19.

Department of Dermatology, Baylor Scott & White Medical Center - Temple, Temple, Texas.

Dermatologic manifestations can be the initial signs of a systemic disease, and a thorough investigation may be warranted to rule out a life-altering diagnosis. We present a case of an 11-year-old boy with a concurrent presentation of eruptive syringomas and juxtaclavicular beaded lines on his neck. While a biopsy confirmed the benign diagnosis, the initial presentation led to a concerning differential including pseudoxanthoma elasticum and warranted a complete investigation. Read More

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January 2021

ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.

Int J Mol Sci 2021 Apr 27;22(9). Epub 2021 Apr 27.

Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, HI 96817, USA.

Pathological (ectopic) mineralization of soft tissues occurs during aging, in several common conditions such as diabetes, hypercholesterolemia, and renal failure and in certain genetic disorders. Pseudoxanthoma elasticum (PXE), a multi-organ disease affecting dermal, ocular, and cardiovascular tissues, is a model for ectopic mineralization disorders. ABCC6 dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy (GACI). Read More

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Effect of Quercetin on ABCC6 Transporter: Implication in HepG2 Migration.

Int J Mol Sci 2021 Apr 8;22(8). Epub 2021 Apr 8.

Department of Sciences, University of Basilicata, 85100 Potenza, Italy.

Quercetin is a member of the flavonoid group of compounds, which is abundantly present in various dietary sources. It has excellent antioxidant properties and anti-inflammatory activity and is very effective as an anti-cancer agent against various types of tumors, both in vivo and in vitro. Quercetin has been also reported to modulate the activity of some members of the multidrug-resistance transporters family, such as P-gp, ABCC1, ABCC2, and ABCG2, and the activity of ecto-5'-nucleotidase (NT5E/CD73), a key regulator in some tumor processes such as invasion, migration, and metastasis. Read More

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Clinical and subclinical findings in heterozygous carriers: results from a Belgian cohort and clinical practice guidelines.

J Med Genet 2021 Apr 5. Epub 2021 Apr 5.

Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium

Background: Biallelic pathogenic variants in the () gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous variants are associated with an increased risk of cardiovascular and cerebrovascular disease. As the prevalence of pathogenic variants in the general population is estimated at ~1%, identifying additional -related (sub)clinical manifestations in heterozygous carriers is of the utmost importance to reduce this burden of disease. Here, we present a large Belgian cohort of heterozygous carriers with comprehensive clinical, biochemical and imaging data. Read More

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Abdominal elastotic lesions. A clinicopathologic study of 23 cases.

Rom J Morphol Embryol 2020 Jul-Sep;61(3):841-851

Department of Medical and Surgical Sciences, University of Cantabria, Santander, Spain;

Abdominal elastotic deposits are uncommon lesions that often presents as polyps. They show three histological patterns: fibroelastosis, angioelastosis, and elastofibroma. We describe 23 cases including rare locations, such as mesentery, greater omentum, hernia sac, spleen, peripancreatic fat, and hypodermal fat. Read More

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Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.

J Stroke Cerebrovasc Dis 2021 Jun 1;30(6):105744. Epub 2021 Apr 1.

Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy. Electronic address:

Background And Objectives: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC6 gene. The phenotypic spectrum of PXE is highly variable and includes principally three major features: skin lesions, eye and vascular manifestations, while brain manifestations are less common. To date about 400 different PXE associated variants in ABCC6 gene are described without any evident genotype-phenotype correlation. Read More

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Genotype-phenotype correlation in pseudoxanthoma elasticum.

Atherosclerosis 2021 05 13;324:18-26. Epub 2021 Mar 13.

Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, the Netherlands. Electronic address:

Background And Aims: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs. Read More

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Structural and Functional Characterization of the ABCC6 Transporter in Hepatic Cells: Role on PXE, Cancer Therapy and Drug Resistance.

Int J Mol Sci 2021 Mar 11;22(6). Epub 2021 Mar 11.

Department of Sciences, University of Basilicata, 85100 Potenza, Italy.

Pseudoxanthoma elasticum (PXE) is a complex autosomal recessive disease caused by mutations of ABCC6 transporter and characterized by ectopic mineralization of soft connective tissues. Compared to the other ABC transporters, very few studies are available to explain the structural components and working of a full ABCC6 transporter, which may provide some idea about its physiological role in humans. Some studies suggest that mutations of in the liver lead to a decrease in some circulating factor and indicate that PXE is a metabolic disease. Read More

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Treatment of pseudoxanthoma elasticum with probenecid.

Australas J Dermatol 2021 Apr 1. Epub 2021 Apr 1.

Department of Dermatology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

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A New Zebrafish Model for Pseudoxanthoma Elasticum.

Front Cell Dev Biol 2021 9;9:628699. Epub 2021 Mar 9.

Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary.

Calcification of various tissues is a significant health issue associated with aging, cancer and autoimmune diseases. There are both environmental and genetic factors behind this phenomenon and understanding them is essential for the development of efficient therapeutic approaches. Pseudoxanthoma elasticum (PXE) is a rare genetic disease, a prototype for calcification disorders, resulting from the dysfunction of ABCC6, a transport protein found in the membranes of cells. Read More

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Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

BMC Res Notes 2021 Mar 20;14(1):105. Epub 2021 Mar 20.

Department of Biochemistry and Microbiology, North South University, Dhaka, 1229, Bangladesh.

Objective: The major objective of the study was to sequence the whole genome of four Bangladeshi individuals and identify variants that are known to be associated with functional changes or disease states. We also carried out an ontology analysis to identify the functions and pathways most likely to be affected by these variants.

Results: We identified around 900,000 common variants and close to 5 million unique ones in all four of the individuals. Read More

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

Cells 2021 Feb 19;10(2). Epub 2021 Feb 19.

Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by mutations in the gene. Our previous studies revealed that PXE might be associated with premature aging. Treatment with statins showed positive effects not only for PXE but also for other diseases associated with premature aging like Hutchinson-Gilford progeria syndrome. Read More

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February 2021

ABCC6 deficiency promotes dyslipidemia and atherosclerosis.

Sci Rep 2021 Feb 16;11(1):3881. Epub 2021 Feb 16.

Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, 651 Ilalo St. BSB222E, Honolulu, HI, USA.

ABCC6 deficiency promotes ectopic calcification; however, circumstantial evidence suggested that ABCC6 may also influence atherosclerosis. The present study addressed the role of ABCC6 in atherosclerosis using Ldlr mice and pseudoxanthoma elasticum (PXE) patients. Mice lacking the Abcc6 and Ldlr genes were fed an atherogenic diet for 16 weeks before intimal calcification, aortic plaque formation and lipoprotein profile were evaluated. Read More

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February 2021

Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum.

Diagnostics (Basel) 2021 Feb 8;11(2). Epub 2021 Feb 8.

Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.

Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications. In our present study, in addition to dermoscopy, we introduced novel techniques, autofluorescence (AF) and diffuse reflectance (DR) imaging for the assessment of affected skin sites of five PXE patients. Read More

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February 2021

Dermal Alterations in Clinically Unaffected Skin of Patients.

J Clin Med 2021 Feb 1;10(3). Epub 2021 Feb 1.

Department of Life Sciences, University of Modena and Reggio Emilia, Via Campi, 287, 41125 Modena, Italy.

Background: Pseudoxanthoma elasticum (PXE), due to rare sequence variants in the gene, is characterized by calcification of elastic fibers in several tissues/organs; however, the pathomechanisms have not been completely clarified. Although it is a systemic disorder on a genetic basis, it is not known why not all elastic fibers are calcified in the same patient and even in the same tissue. At present, data on soft connective tissue mineralization derive from studies performed on vascular tissues and/or on clinically affected skin, but there is no information on patients' clinically unaffected skin. Read More

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February 2021

A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6 mouse model of pseudoxanthoma elasticum.

Exp Dermatol 2021 Jun 1;30(6):853-858. Epub 2021 Feb 1.

Department of Dermatology and Cutaneous Biology, PXE International Center of Excellence in Research and Clinical Care, Jefferson Institute of Molecular Medicine, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic calcification disorders, affects the skin, eyes and the cardiovascular system due to inactivating mutations in the ABCC6 gene. There is no effective treatment for the systemic manifestations of PXE. In this study, the efficacy of INS-3001, an analogue of phytic acid, was tested for inhibition of ectopic calcification in an Abcc6 mouse model of PXE. Read More

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Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.

Sci Rep 2021 Jan 22;11(1):2137. Epub 2021 Jan 22.

Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, 32545, Bad Oeynhausen, Germany.

Genetic studies link adenosine triphosphate-binding cassette transporter C6 (ABCC6) mutations to pseudoxanthoma elasticum (PXE). ABCC6 sequence variations are correlated with altered HDL cholesterol levels and an elevated risk of coronary artery diseases. However, the role of ABCC6 in cholesterol homeostasis is not widely known. Read More

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January 2021

Polypoidal choroidal vasculopathy in a patient with angioid streaks treated by bevacizumab.

Tunis Med 2020 Oct;98(10):754-761

Objective: We report the association of polypoid choroidal vasculopathy (PVC) with angioid streaks (AS) secondary to pseudoxanthoma elasticum (PXE) treated by intravitreal injection of bevacizumab.

Case Report: A 50-year-old patient, followed in dermatology for a PXE, who consulted for a consulted for a decreased vision in his right eye (RE) for a month. On examination, best corrected visual acuity (BCVA) was at 1/20 P14 in the RE and at 8/10 P2 in the left eye (LE). Read More

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October 2020

Perforating pseudoxanthoma elasticum of the arms: a rare case report.

Eur J Dermatol 2020 12;30(6):731-732

Department of Dermatovenereology, West China Hospital, Sichuan University, No. 37, Guo Xue Xiang, Wuhou District, 610041 Chengdu, China.

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December 2020

Leg ulceration with histological features of pseudoxanthoma elasticum.

Proc (Bayl Univ Med Cent) 2020 Oct 6;34(1):87-88. Epub 2020 Oct 6.

Department of Dermatology, Baylor Scott & White Medical Center, Temple, Texas.

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder with extensive degeneration and calcification of elastic tissue. Histology demonstrates calcified elastic fibers in the mid to lower dermis with a characteristic "steel wool" appearance. A limited number of published cases have described various inflammatory skin diseases presenting with PXE-like histology without clinical manifestations of PXE. Read More

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October 2020

Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.

J Clin Med 2020 Dec 31;10(1). Epub 2020 Dec 31.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and the PXE International Center for Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Pseudoxanthoma elasticum (PXE), the prototype of heritable ectopic mineralization disorders, manifests with deposition of calcium hydroxyapatite crystals in the skin, eyes and arterial blood vessels. This autosomal recessive disorder, due to mutations in , is usually diagnosed around the second decade of life. In the spectrum of heritable ectopic mineralization disorders are also generalized arterial calcification of infancy (GACI), with extremely severe arterial calcification diagnosed by prenatal ultrasound or perinatally, and arterial calcification due to CD73 deficiency (ACDC) manifesting with arterial and juxta-articular mineralization in the elderly; the latter disorders are caused by mutations in and , respectively. Read More

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December 2020