1,861 results match your criteria Pseudoxanthoma Elasticum


Accelerated peripheral vascular aging in pseudoxanthoma elasticum - proof of concept for arterial calcification-induced cardiovascular disease.

Aging (Albany NY) 2019 Feb;11(3):1062-1064

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

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http://dx.doi.org/10.18632/aging/101821DOI Listing
February 2019

D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin.

Ann Saudi Med 2019 Jan-Feb;39(1):56-60

Dr. Muzamil Amin Chisti, MBC 46 Department of Dermatology,, King Faisal Specialist Hospital and Research Centre,, PO Box 3354, Riyadh 11211, Saudi Arabia, T: +966114424608, ORCID: http:// orcid.org/0000-0002-6877-2715.

D-penicillamine (DPA)-induced pseudo-pseudoxanthoma elasticum (PXE) and elastosis perforans serpiginosa (EPS) has been reported in the past, but most of the treatment modalities used before have a sub.optimal response. We report a case of DPA-induced pseudo-PXE with extensive EPS who had an excellent rapid response to acitretin. Read More

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http://dx.doi.org/10.5144/0256.4947.2019.56DOI Listing
February 2019

Cutaneous Elastic Tissue Anomalies.

Am J Dermatopathol 2019 Feb;41(2):85-117

Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.

After a review of the physiology in the formation and degradation of cutaneous elastic tissue, we describe the clinicopathologic disorders characterized by increased and decreased cutaneous elastic tissue. Cutaneous disorders characterized by increased and/or abnormal elastic tissue in the dermis include elastoma, also named nevus elasticus, dermatosis lenticularis disseminata, pseudoxanthoma elasticum, late-onset focal dermal elastosis, linear focal elastosis, elastoderma, elastofibroma dorsi, and elastosis perforans serpiginosa. In some of these conditions, the specific histopathologic diagnosis may be rendered with hematoxylin-eosin stain, whereas in other ones special elastic tissue stains are necessary to demonstrate the anomalies. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001275DOI Listing
February 2019
2 Reads

Calciphylaxis and nephrogenic fibrosing dermopathy with pseudoxanthoma elasticum-like changes: Successful treatment with sodium thiosulfate.

J Dermatol 2019 Jan 21. Epub 2019 Jan 21.

Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.

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http://dx.doi.org/10.1111/1346-8138.14780DOI Listing
January 2019
10 Reads

Adenovirus-mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.

J Invest Dermatol 2019 Jan 10. Epub 2019 Jan 10.

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

Loss-of-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum (PXE) and type 2 generalized arterial calcification of infancy (GACI), heritable ectopic mineralization disorders without effective treatment. ABCC6 encodes the putative efflux transporter ABCC6 which is predominantly expressed in the liver. While the substrate of ABCC6 remains unknown, recent studies demonstrated that PXE is a metabolic disorder caused by reduced circulating levels of pyrophosphate (PPi), a potent mineralization inhibitor. Read More

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http://dx.doi.org/10.1016/j.jid.2018.12.017DOI Listing
January 2019

Cellular signaling in pseudoxanthoma elasticum: an update.

Cell Signal 2019 Mar 4;55:119-129. Epub 2019 Jan 4.

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

Pseudoxanthoma elasticum is an autosomal recessive genodermatosis with variable expression, due to mutations in the ABCC6 or ENPP1 gene. It is characterized by elastic fiber mineralization and fragmentation, resulting in skin, eye and cardiovascular symptoms. Significant advances have been made in the last 20 years with respect to the phenotypic characterization and pathophysiological mechanisms leading to elastic fiber mineralization. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08986568183031
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http://dx.doi.org/10.1016/j.cellsig.2018.12.009DOI Listing
March 2019
2 Reads

Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues.

Lipids Health Dis 2019 Jan 5;18(1). Epub 2019 Jan 5.

Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, D-32545, Bad Oeynhausen, Germany.

Background: ATP-binding cassette (ABC) transporters are involved in a huge range of physiological processes. Mutations in the ABCC6 gene cause pseudoxanthoma elasticum, a metabolic disease with progressive soft tissue calcification.

Methods: The aim of the present study was to analyze gene expression levels of selected ABC transporters associated with cholesterol homeostasis in metabolic active tissues, such as the liver, kidney and white adipose tissue (WAT) of Abcc6 mice from an early and late disease stage (six-month-old and 12-month-old mice). Read More

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http://dx.doi.org/10.1186/s12944-018-0943-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320597PMC
January 2019

Angioid streaks in pseudoxanthoma elasticum.

Postgrad Med J 2018 Dec 22. Epub 2018 Dec 22.

Eye Centre, Pinderfields Hospital, Wakefield, UK

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http://pmj.bmj.com/lookup/doi/10.1136/postgradmedj-2018-1360
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http://dx.doi.org/10.1136/postgradmedj-2018-136088DOI Listing
December 2018
6 Reads

Inborn Errors of Metabolism: Pseudoxanthoma Elasticum.

Adv Exp Med Biol 2018 ;1085:187-189

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include angioid streaks (Fig. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_38
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http://dx.doi.org/10.1007/978-3-319-95046-4_38DOI Listing
January 2018
6 Reads

Peripheral Linear Streaks in Pseudoxanthoma Elasticum.

Ophthalmic Surg Lasers Imaging Retina 2018 Dec;49(12):e292-e295

The authors report a case of unilateral curvilinear streaks occurring in a patient with pseudoxanthoma elasticum. These represent a previously unreported finding in this disease, as usually found in inflammatory or infective conditions. [Ophthalmic Surg Lasers Imaging Retina. Read More

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http://dx.doi.org/10.3928/23258160-20181203-22DOI Listing
December 2018
1 Read

Classic pseudoxanthoma elasticum in a girl with sickle cell disease.

Pediatr Dermatol 2019 Jan 9;36(1):e64-e65. Epub 2018 Dec 9.

Department of Dermatology and Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. Read More

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http://dx.doi.org/10.1111/pde.13712DOI Listing
January 2019
4 Reads

Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment.

J Investig Dermatol Symp Proc 2018 Dec;19(2):S106-S107

Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is an autosomal recessive disease characterized by deposition of calcium hydroxyapatite in the skin, eyes, and cardiovascular system, with protean manifestations (Li et al., 2016; Li and Uitto, 2013; Neldner, 1988). The classic form of PXE is late-onset and slow-progressing, and the major clinical problems relate to loss of vision and development of cardiovascular complications (Neldner, 1988). Read More

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http://dx.doi.org/10.1016/j.jisp.2018.10.007DOI Listing
December 2018
2 Reads

Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum.

Graefes Arch Clin Exp Ophthalmol 2019 Feb 23;257(2):273-278. Epub 2018 Nov 23.

Institut Clínic d'Oftalmologia, Hospital Clínic de Barcelona, Barcelona, Spain.

Purpose: To evaluate the efficacy of intravitreal anti-VEGF injections in choroidal neovascularization (CNV) related to pattern dystrophy-like deposit in pseudoxanthoma elasticum (PXE).

Methods: One-year prospective, interventional study. Nine eyes were recruited in the ophthalmology departments of San Raffaele University and University of Barcelona. Read More

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http://dx.doi.org/10.1007/s00417-018-4190-7DOI Listing
February 2019
18 Reads

Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients.

J Invest Dermatol 2018 Nov 20. Epub 2018 Nov 20.

Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA. Electronic address:

Pseudoxanthoma elasticum is a heritable disease caused by ABCC6 deficiency. Patients develop ectopic calcification in skin, eyes, and vascular tissues. ABCC6, primarily found in liver and kidneys, mediates the cellular efflux of ATP, which is rapidly converted into inorganic pyrophosphate (PPi), a potent inhibitor of calcification. Read More

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http://dx.doi.org/10.1016/j.jid.2018.10.040DOI Listing
November 2018
7 Reads

Papular elastorrhexis: clinical perspectives.

Clin Cosmet Investig Dermatol 2018 26;11:541-544. Epub 2018 Oct 26.

Department of Dermatology, Acibadem University School of Medicine, Istanbul, Turkey,

First described by Bordas in 1987, papular elastorrhexis (PE) is a rare elastic fiber disorder of the skin characterized by multiple, discrete, asymptomatic, firm, nonfollicular, monomorphous, 1-5 mm, circumscribed, hypopigmented, oval to round papules, symmetrically distributed on the chest, abdomen, back, shoulders, arms, and thighs. The onset of the condition is usually in the first or second decade of life. PE appears to be an exceedingly rare entity, with 33 cases reported in the literature until now. Read More

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http://dx.doi.org/10.2147/CCID.S151020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208790PMC
October 2018
1 Read

PXE, a Mysterious Inborn Error Clarified.

Trends Biochem Sci 2019 Feb 13;44(2):125-140. Epub 2018 Nov 13.

Department of Dermatology and Cutaneous Biology and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape. Nevertheless, it took until 2013 to identify the cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in aberrant calcification. Read More

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http://dx.doi.org/10.1016/j.tibs.2018.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340748PMC
February 2019
1 Read

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0569-3822
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http://dx.doi.org/10.1055/a-0569-3822DOI Listing
November 2018
14 Reads

Structural characterization of the L0 cytoplasmic loop of human multidrug resistance protein 6 (MRP6).

Biochim Biophys Acta Biomembr 2019 Feb 10;1861(2):380-386. Epub 2018 Nov 10.

Department of Sciences, University of Basilicata, viale Ateneo Lucano 10, Potenza 85100, Italy.

ABCC6 is a member of the C subfamily of ATP-binding cassette transporters whose mutations are correlated to Pseudoxanthoma elasticum, an autosomal recessive, progressive disorder characterized by ectopic mineralization and fragmentation of elastic fibers. Structural studies of the entire protein have been hindered by its large size, membrane association, and domain complexity. Studies previously performed have contributed to shed light on the structure and function of the nucleotide binding domains and of the N-terminal region. Read More

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http://dx.doi.org/10.1016/j.bbamem.2018.11.002DOI Listing
February 2019
1 Read

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.

Am J Pathol 2019 Feb 7;189(2):216-225. Epub 2018 Nov 7.

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

Ectopic mineralization is a global problem and leading cause of morbidity and mortality. The pathomechanisms of ectopic mineralization are poorly understood. Recent studies on heritable ectopic mineralization disorders with defined gene defects have been helpful in elucidation of the mechanisms of ectopic mineralization in general. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029440183045
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http://dx.doi.org/10.1016/j.ajpath.2018.09.014DOI Listing
February 2019
12 Reads

Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum.

J Invest Dermatol 2018 Nov;138(11):2301-2304

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

Zebrafish represent a powerful model system with which to study human biology and pathology. Recently developed CRISPR/Cas9 technology enables genetic manipulation with precision. Using CRISPR/Cas9 methodology, van Gils et al. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183235
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http://dx.doi.org/10.1016/j.jid.2018.07.007DOI Listing
November 2018
10 Reads

Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum.

Acta Ophthalmol 2018 Oct 17. Epub 2018 Oct 17.

Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai, China.

Purpose: To identify the clinical characteristics and pathogenic genes among a Chinese family with angioid streaks and to assess a novel splicing mutation at the transcriptional and translational levels.

Methods: Consenting family members were clinically evaluated, and blood samples were collected for targeted exome capture sequencing and/or Sanger sequencing. The two affected siblings were assessed by multimodal fundus imaging. Read More

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http://doi.wiley.com/10.1111/aos.13819
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http://dx.doi.org/10.1111/aos.13819DOI Listing
October 2018
14 Reads

EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings.

Retina 2019 Jan;39(1):12-26

The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Science, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

Purpose: To investigate the macular changes over time in eyes containing subretinal drusenoid deposits (also known as pseudodrusen) with no drusen >63 µm.

Methods: A consecutive series of patients were examined with color fundus photography, optical coherence tomography, and autofluorescence imaging with fluorescein angiography used as necessary. Exclusionary criteria included macular neovascularization, history of retinal surgery, pseudoxanthoma elasticum, and drusen >63 µm. Read More

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http://Insights.ovid.com/crossref?an=00006982-900000000-9633
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http://dx.doi.org/10.1097/IAE.0000000000002362DOI Listing
January 2019
1 Read

PNEUMATIC COMPACTION TREATMENT OF ACUTE SUBFOVEAL HEMORRHAGE AFTER BLUNT TRAUMA IN A PATIENT WITH ANGIOID STREAKS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM.

Retin Cases Brief Rep 2018 Oct 8. Epub 2018 Oct 8.

South Jersey Eye Physicians, Moorestown, New Jersey; and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

Purpose: To report a case of photoreceptor restitution and vision improvement with pneumatic compaction treatment of acute subfoveal hemorrhage in a patient with angioid streaks associated with pseudoxanthoma elasticum, observed by sequential fundus photography, spectral domain optical coherence tomography, and fundus autofluorescence.

Methods: Findings on initial and sequential clinical examinations, fundus autofluorescence, and spectral domain optical coherence tomography are presented, before and after pneumatic compaction, demonstrating the course of compaction and resolution of subfoveal hemorrhage and status of the foveal ellipsoid zone and external limiting membrane. Sequential improvements in oxygen and nutrient diffusion are calculated using Fick's law of diffusion. Read More

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http://Insights.ovid.com/crossref?an=01271216-900000000-9874
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http://dx.doi.org/10.1097/ICB.0000000000000827DOI Listing
October 2018
1 Read

Reticular pseudodrusen: current understanding.

Clin Exp Optom 2018 Oct 8. Epub 2018 Oct 8.

Centre for Eye Research Australia, Melbourne, Victoria, Australia.

Reticular pseudodrusen (RPD), also known as subretinal drusenoid deposits, represent a morphological change to the retina distinct from other subtypes of drusen by being located above the level of the retinal pigment epithelium. Although they can infrequently appear in individuals with no other apparent pathology, their highest rates of occurrence are in association with age-related macular degeneration (AMD), for which they hold clinical significance by being highly correlated with end-stage disease sub-types, choroidal neovascularisation and geographic atrophy. Reticular pseudodrusen are also found in other diseases, most notably Sorsby's fundus dystrophy, pseudoxanthoma elasticum and acquired vitelliform lesions. Read More

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http://doi.wiley.com/10.1111/cxo.12842
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http://dx.doi.org/10.1111/cxo.12842DOI Listing
October 2018
9 Reads

Dermoscopical and pathological findings in pseudoxanthoma elasticum-like papillary dermal elastolysis.

G Ital Dermatol Venereol 2018 Oct 3. Epub 2018 Oct 3.

Unit of Dermatology and Cosmetology, IRCCS Ospedale San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.

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http://dx.doi.org/10.23736/S0392-0488.18.06090-XDOI Listing
October 2018

Keratotic papules in an annular arrangement.

JAAD Case Rep 2018 Oct 29;4(9):851-853. Epub 2018 Sep 29.

University of Texas Health at San Antonio, San Antonio, Texas.

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https://linkinghub.elsevier.com/retrieve/pii/S23525126183017
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http://dx.doi.org/10.1016/j.jdcr.2018.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168923PMC
October 2018
3 Reads

ANGIOID STREAKS: A Comprehensive Review From Pathophysiology to Treatment.

Retina 2019 Jan;39(1):1-11

2nd Department of Ophthalmology, University of Athens, Athens, Greece.

Purpose: To stratify the literature on angioid streaks, from pathophysiology to treatment.

Methods: Review of the current literature.

Results: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma elasticum, Paget disease, Ehlers-Danlos syndrome, hemoglobinopathies, or other diseases of the collagen. Read More

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http://Insights.ovid.com/crossref?an=00006982-900000000-9635
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http://dx.doi.org/10.1097/IAE.0000000000002327DOI Listing
January 2019
18 Reads

Pseudoxanthoma elasticum: Dermoscopy and mutation analysis.

Australas J Dermatol 2018 Sep 19. Epub 2018 Sep 19.

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

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http://dx.doi.org/10.1111/ajd.12930DOI Listing
September 2018
2 Reads

Dermatoscopy of Common Lesions in Pediatric Dermatology.

Dermatol Clin 2018 Oct 16;36(4):463-472. Epub 2018 Aug 16.

Dermatology Clinic, University of Catania, Via S. Sofia 78, Catania 95123, Italy.

The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin appendage disorders is constantly increasing, as it is effective, affordable, noninvasive, and quick to perform. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338635183108
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http://dx.doi.org/10.1016/j.det.2018.05.012DOI Listing
October 2018
16 Reads
1.434 Impact Factor

Pseudoxanthoma elasticum-ähnliche papilläre dermale Elastolyse bei frontal fibrosierender Alopezie.

J Dtsch Dermatol Ges 2018 Sep;16(9):1136-1138

Department of Experimental, Diagnostic and Specialty Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/ddg.13603_gDOI Listing
September 2018

Retinal imaging including optical coherence tomography angiography for detecting active choroidal neovascularization in pseudoxanthoma elasticum.

Clin Exp Ophthalmol 2018 Aug 31. Epub 2018 Aug 31.

Department of Ophthalmology, University of Bonn, Bonn, Germany.

Importance: The diagnostic accuracy of different retinal imaging modalities to detect active choroidal neovascularization (CNV) in pseudoxanthoma elasticum (PXE) is essential to enable a correct diagnosis but is currently poorly understood.

Background: Optical coherence tomography (OCT), fluorescein angiography (FA) and OCT angiography (OCT-A) are employed in daily practice, but a systematic comparison of these imaging techniques is lacking.

Design: Retrospective, observational study. Read More

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http://doi.wiley.com/10.1111/ceo.13385
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http://dx.doi.org/10.1111/ceo.13385DOI Listing
August 2018
6 Reads

Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells.

Front Mol Biosci 2018 14;5:75. Epub 2018 Aug 14.

Department of Sciences University of Basilicata, Potenza, Italy.

The ATP-binding cassette sub-family C member 6 transporter (ABCC6) is an ATP dependent transporter mainly found in the basolateral plasma membrane of hepatic and kidney cells. Mutations in gene were associated to the Pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by a progressive ectopic calcification of elastic fibers in dermal, ocular, and vascular tissues. It is reported that the over-expression of ABCC6 in HEK293 cells results in the cellular efflux of ATP and other nucleoside triphosphates, which in turn are rapidly converted into nucleoside monophosphates and pyrophosphate (PPi). Read More

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https://www.frontiersin.org/article/10.3389/fmolb.2018.00075
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http://dx.doi.org/10.3389/fmolb.2018.00075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102951PMC
August 2018
5 Reads

Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.

J Biol Chem 2018 Oct 28;293(41):15855-15866. Epub 2018 Aug 28.

From the Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15219

Mutations in ABC subfamily C member 6 (ABCC6) transporter are associated with pseudoxanthoma elasticum (PXE), a disease resulting in ectopic mineralization and affecting multiple tissues. A growing number of mutations have been identified in individuals with PXE. For most of these variants, no mechanistic information is available regarding their role in normal and pathophysiologies. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA118.004806
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http://dx.doi.org/10.1074/jbc.RA118.004806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187630PMC
October 2018
12 Reads

[Study of fundus examination by age in 158 pseudoxanthoma elasticum patients].

J Fr Ophtalmol 2018 Sep 22;41(7):592-602. Epub 2018 Aug 22.

Service d'ophtalmologie, centre hospitalier universtaire, 49100 Angers, France; Centre de référence des maladies rares de la peau (MAGEC), consultation multidisciplinaire pseudoxanthome élastique, CHU, 49100 Angers, France. Electronic address:

Purpose: To study the prevalence of fundus anomalies among patients with pseudoxanthoma elasticum as a function of their age.

Material And Methods: All patients have had a complete ophthalmologic examination in multidisciplinary consultation for PXE in a national reference center.

Results: Hundred and fifty-eight patients (60 men and 98 women aged from 10 to 90 years old, mean 45±17 years) were included in a cross-sectional retrospective study. Read More

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http://dx.doi.org/10.1016/j.jfo.2018.03.003DOI Listing
September 2018
1 Read

Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6 Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

J Invest Dermatol 2019 Feb 18;139(2):360-368. Epub 2018 Aug 18.

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

Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter ABCC6. It was recently shown that the absence of ABCC6-mediated adenosine triphosphate release from the liver and, consequently, reduced inorganic pyrophosphate levels underlie the pathogenesis of PXE. Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading inorganic pyrophosphate, we hypothesized that reducing TNAP levels either by genetic or pharmacological means would lead to amelioration of the ectopic mineralization phenotype in the Abcc6 mouse model of PXE. Read More

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http://dx.doi.org/10.1016/j.jid.2018.07.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342656PMC
February 2019

The extent of pseudoxanthoma elasticum skin changes is related to cardiovascular complications and visual loss: a cross-sectional study.

Br J Dermatol 2019 Jan 14;180(1):207-208. Epub 2018 Oct 14.

Consultations multidisciplinaires PXE, Centre de référence de Maladies rares de la peau - MAGEC, CHU d'Angers, France.

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http://doi.wiley.com/10.1111/bjd.17094
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http://dx.doi.org/10.1111/bjd.17094DOI Listing
January 2019
13 Reads

Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum ( ).

Oncotarget 2018 Jul 20;9(56):30721-30730. Epub 2018 Jul 20.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable disorders manifesting with ectopic tissue mineralization. Most cases of PXE and some cases of GACI are caused by mutations in the gene, resulting in reduced plasma pyrophosphate (PPi) levels. There is no effective treatment for these disorders. Read More

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http://www.oncotarget.com/fulltext/10738
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http://dx.doi.org/10.18632/oncotarget.10738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089405PMC
July 2018
6 Reads

Pseudoxanthoma elasticum-like papillary dermal elastolysis in frontal fibrosing alopecia.

J Dtsch Dermatol Ges 2018 Sep 30;16(9):1136-1138. Epub 2018 Jul 30.

Department of Experimental, Diagnostic and Specialty Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/ddg.13603DOI Listing
September 2018
1 Read

PSEUDOXANTHOMA ELASTICUM: SUCCESSFUL LONG-TERM MANAGEMENT OF CHOROIDAL NEOVASCULARIZATION SECONDARY TO ANGIOID STREAKS WITH PRO RE NATA INTRAVITREAL BEVACIZUMAB INJECTIONS.

Retin Cases Brief Rep 2018 Jul 25. Epub 2018 Jul 25.

Eye Department, University of Otago, FRANZCO 1993, Whangarei Base Hospital, Maunu, New Zealand.

Purpose: To demonstrate how a patient with recurrent episodes of choroidal neovascularization (CNV), secondary to angioid streaks, can be managed successfully with a pro re nata regime of intravitreal bevacizumab injection over an eight-year period.

Method: A 32-year-old white woman with pseudoxanthoma elasticum has been followed up over an eight-year period for management of recurrent episodes of CNV in both eyes. She was educated to recognize the early signs and symptoms of CNV. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000774DOI Listing

Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish.

J Invest Dermatol 2018 Nov 17;138(11):2333-2342. Epub 2018 Jul 17.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Electronic address:

Pseudoxanthoma elasticum is an ectopic mineralization disease due to biallelic ABCC6 mutations. As no treatment options are currently available, a reliable zebrafish model is invaluable for high throughput compound screening. However, data from previously reported knockdown and mutant zebrafish models for abcc6a, the functional orthologue of ABCC6, showed phenotypic discrepancies. Read More

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http://dx.doi.org/10.1016/j.jid.2018.06.183DOI Listing
November 2018
1 Read

Pseudoxanthoma elasticum.

Med Clin (Barc) 2018 Jul 9. Epub 2018 Jul 9.

Departamento de Patología, Hospital Regional Universitario de Málaga, Málaga, España.

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http://dx.doi.org/10.1016/j.medcli.2018.05.025DOI Listing
July 2018
4 Reads

ABCC6 Deficiency Promotes Development of Randall Plaque.

J Am Soc Nephrol 2018 Sep 10;29(9):2337-2347. Epub 2018 Jul 10.

Institut des maladies mitochondriales, du coeur et des vaisseaux-MITOVASC, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale U1083, Angers University, Angers, France.

Background: Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. Read More

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http://dx.doi.org/10.1681/ASN.2017101148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115671PMC
September 2018
24 Reads

MULTIMODAL IMAGING OF FOCAL CHOROIDAL EXCAVATION COMPLICATED BY CHOROIDAL NEOVASCULARIZATION IN A PATIENT WITH ANGIOID STREAKS AND PSEUDOXANTHOMA ELASTICUM.

Retin Cases Brief Rep 2018 Jun 26. Epub 2018 Jun 26.

Department of Ophthalmology, University of Sao Paulo, Sao Paulo, Brazil.

Purpose: To describe a case of focal choroidal excavation (FCE) complicated with Type-2 choroidal neovascularization (CNV) in a patient with angioid streaks secondary to pseudoxanthoma elasticum before and after treatment with bevacizumab.

Methods: Fundus photography, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral-domain optical coherence tomography (SD-OCT) and SD-OCT angiography were performed in a 60-year-old white woman with angioid streaks and bilateral FCE. Spectral domain OCT images were taken before and after three-monthly intravitreal injections of bevacizumab. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000759DOI Listing

Pseudoxanthoma elasticum in Italy: epidemiological and clinical aspects.

G Ital Dermatol Venereol 2018 Jun 29. Epub 2018 Jun 29.

Department of Dermatology and Venereology, Policlinico Umberto I, "Sapienza" University of Rome, Rome, Italy.

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http://dx.doi.org/10.23736/S0392-0488.18.06076-5DOI Listing
June 2018
2 Reads

Peripapillary comet lesions and comet rain in PXE-related retinopathy.

Graefes Arch Clin Exp Ophthalmol 2018 Sep 12;256(9):1605-1614. Epub 2018 Jun 12.

Department of Surgery and Translational Medicine, Eye Clinic, University of Florence, Largo Brambilla, 3, 50134, Florence, Italy.

Purpose: To study peripapillary comet lesions (PCL) in Italian patients affected with pseudoxanthoma elasticum (PXE).

Methods: Retrospective review of fundoscopic and swept-source (SS) optical coherence tomography (OCT) images of patients with PXE examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Careggi Teaching Hospital of Florence from 2012 to 2017.

Results: From 148 eyes of 74 patients affected with PXE, we identified 24 eyes of 14 patients (11 were female) with a mean age of 39 years (range, 20-58 years) characterized by peripapillary comet lesions. Read More

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http://link.springer.com/10.1007/s00417-018-4037-2
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http://dx.doi.org/10.1007/s00417-018-4037-2DOI Listing
September 2018
6 Reads

Reticular Pseudodrusen and Thin Choroid Are Associated With Angioid Streaks.

Authors:
Vinod Kumar

Ophthalmic Surg Lasers Imaging Retina 2018 Jun;49(6):402-408

Background And Objective: To report the association of angioid streaks in patients with Pseudoxanthoma elasticum (PXE) with reticular pseudodrusen (RPD), thin choroid, and retinal pigment epithelium (RPE) atrophy using swept-source optical coherence tomography (SS-OCT) and short-wave autofluorescence (SWAF).

Patients And Methods: Retrospective cross-sectional study. Records of consecutive patients with angioid streaks due to PXE, who presented with a decrease of vision due to choroidal neovascularization (CNV), were reviewed for best-corrected visual acuity, color fundus photographs, SS-OCT, SWAF, and red-free images with special emphasis on presence or absence of RPD, subfoveal choroidal thickness (SFCT), and RPE atrophy. Read More

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http://dx.doi.org/10.3928/23258160-20180601-04DOI Listing
June 2018
1 Read

Pseudoxanthoma elasticum-like papillary dermal elastolysis: a case report and review of literature.

Int J Dermatol 2019 Jan 15;58(1):93-97. Epub 2018 Jun 15.

Department of Dermatology, University College London Hospital, London, UK.

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http://dx.doi.org/10.1111/ijd.14093DOI Listing
January 2019
1 Read

The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases.

Insights Imaging 2018 Aug 1;9(4):493-498. Epub 2018 Jun 1.

Department of Vascular Medicine, University Medical Center, Utrecht University, PO Box 85500, 3508 GA, Utrecht, The Netherlands.

Objectives: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, characterised by elastic fibre degeneration and calcifications in multiple organ systems. Computed tomography (CT) imaging is a potential method to monitor disease progression in PXE patients; however, this method has not been validated. The aim of this study was to correlate histological and computed tomographic findings in PXE patients to investigate the ability of CT scanning to detect these alterations. Read More

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http://dx.doi.org/10.1007/s13244-018-0621-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108976PMC
August 2018
2 Reads

The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort.

Eur J Med Genet 2019 Feb 22;62(2):90-92. Epub 2018 May 22.

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

Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive systemic calcification disorder, is caused by mutations in the ABCC6-gene and associated with severe visual impairment and peripheral arterial disease. Given the progress in development of a therapy for PXE, more precise estimations of its prevalence are warranted.

Methods: We genotyped the four most common ABCC6 mutations (c. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173088
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http://dx.doi.org/10.1016/j.ejmg.2018.05.020DOI Listing
February 2019
6 Reads