1,846 results match your criteria Pseudoxanthoma Elasticum


Classic pseudoxanthoma elasticum in a girl with sickle cell disease.

Pediatr Dermatol 2018 Dec 9. 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
December 2018
1 Read

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
1 Read

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

Graefes Arch Clin Exp Ophthalmol 2018 Nov 23. 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
November 2018
6 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, HI. Electronic address:

Pseudoxanthoma elasticum (PXE) 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 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
2 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

PXE, a Mysterious Inborn Error Clarified.

Trends Biochem Sci 2018 Nov 13. 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
November 2018

[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
9 Reads

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

Biochim Biophys Acta Biomembr 2018 Nov 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
November 2018
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Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.

Am J Pathol 2018 Nov 7. Epub 2018 Nov 7.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, Pennsylvania; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania; 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
November 2018
5 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
5 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
11 Reads

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

Retina 2018 Oct 10. Epub 2018 Oct 10.

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
October 2018
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
5 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 2018 Sep 26. Epub 2018 Sep 26.

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
September 2018
15 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
1 Read

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
5 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
4 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
11 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 2018 Aug 18. 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

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

Br J Dermatol 2018 Aug 16. Epub 2018 Aug 16.

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
August 2018
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
5 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

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
3 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
15 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://dx.doi.org/10.1007/s00417-018-4037-2DOI Listing
September 2018

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 2018 May 22. 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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http://dx.doi.org/10.1016/j.ejmg.2018.05.020DOI Listing
May 2018
2 Reads

Periumbilical perforating pseudoxanthoma elasticum: a rare case report.

Dermatol Pract Concept 2018 Apr 30;8(2):75-77. Epub 2018 Apr 30.

Department of Pathology, Patna Medical College and Hospital, Patna, Bihar, India.

Periumbilical perforating pseudoxanthoma elasticum (PPPXE) usually presents with well-defined periumbilical yellowish atrophic plaques with keratotic papules at the periphery. It is considered a variant of hereditary pseudoxanthoma elasticum or a localized acquired cutaneous dermatosis. The lesions usually occur in the periumbilical area in obese, multiparous women. Read More

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http://dx.doi.org/10.5826/dpc.0802a02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5955072PMC

Subtle skin changes that suggest severe disease.

BMJ 2018 May 18;361:k1336. Epub 2018 May 18.

Universitat Internacional de Catalunya, Barcelona, Spain.

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http://dx.doi.org/10.1136/bmj.k1336DOI Listing
May 2018
4 Reads

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.

Brain Pathol 2018 Nov;28(6):822-831

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

Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors. We investigated the ABCC6 gene as a candidate risk factor for ischemic stroke because of the increased ischemic stroke incidence in the autosomal recessive disorder pseudoxanthoma elasticum, caused by biallelic pathogenic ABCC6 variants, the higher cardiovascular risk in heterozygous carriers and the established role of ABCC6 dysfunction in myocardial ischemia. Read More

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http://dx.doi.org/10.1111/bpa.12620DOI Listing
November 2018
3 Reads

The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study.

Front Med (Lausanne) 2018 16;5:86. Epub 2018 Apr 16.

Internal Medicine, Hospital Clínico Universitario Virgen de la Victoria, Málaga, Spain.

Introduction: Pseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process. Our aim was to investigate, in patients affected by PXE, baseline levels of vitamin K-dependent proteins and -metabolites and whether parenteral administration of phytomenadione was effective in modulating their levels. Read More

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http://dx.doi.org/10.3389/fmed.2018.00086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911498PMC
April 2018
2 Reads

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

Eur J Paediatr Neurol 2018 Jul 12;22(4):725-728. Epub 2018 Apr 12.

Rare Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.04.002DOI Listing
July 2018
3 Reads

Microscopy with ultraviolet surface excitation (MUSE): A novel approach to real-time inexpensive slide-free dermatopathology.

J Cutan Pathol 2018 Jul 8;45(7):498-503. Epub 2018 May 8.

Department of Pathology and Laboratory Medicine, University of California, Sacramento, California.

Traditional histology relies on processing and physically sectioning either frozen or formalin-fixed paraffin-embedded (FFPE) tissue into thin slices (typically 4-6 μm) prior to staining and viewing on a standard wide-field microscope. Microscopy using ultraviolet (UV) surface excitation (MUSE) represents a novel alternative microscopy method that works with UV excitation using oblique cis-illumination, which can generate high-quality images from the cut surface of fresh or fixed tissue after brief staining, with no requirement for fixation, embedding and histological sectioning of tissue specimens. We examined its potential utility in dermatopathology. Read More

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http://dx.doi.org/10.1111/cup.13255DOI Listing
July 2018
5 Reads

VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM.

Retina 2018 Apr 12. Epub 2018 Apr 12.

Department of Ophthalmology, University Medical Center Utrecht, the Netherlands.

Purpose: To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality and similar data of late age-related macular degeneration patients.

Methods: Cross-sectional data of 195 patients with PXE were reviewed, including best-corrected visual acuity and imaging. The World Health Organisation criteria were used to categorize bilateral visual impairment. Read More

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http://dx.doi.org/10.1097/IAE.0000000000002173DOI Listing

Prevalence of shoulder calcification in pseudoxanthoma elasticum patients.

Joint Bone Spine 2018 Dec 6;85(6):777-778. Epub 2018 Apr 6.

Reference Centre for PXE, Angers University Hospital, 49933 Angers, France; Department of Dermatology, Angers University Hospital, 49933 Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2018.03.008DOI Listing
December 2018
2 Reads

Ophthalmologic manifestations of pseudoxanthoma elasticum.

Authors:
Khrifi Zineb

Oman J Ophthalmol 2018 Jan-Apr;11(1):88-89

Department of Ophthalmology, La Marche Verte Hospital, Missour, Morocco.

Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels. Read More

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http://dx.doi.org/10.4103/ojo.OJO_123_2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848361PMC
March 2018
1 Read

Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism?

Intractable Rare Dis Res 2018 Feb;7(1):25-31

Department of Internal Medicine II-Cardiology, Pulmonology and Angiology, University Hospital Bonn, Bonn, Germany.

Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). Read More

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http://dx.doi.org/10.5582/irdr.2018.01004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849621PMC
February 2018
5 Reads

Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient.

J Eur Acad Dermatol Venereol 2018 Sep 30;32(9):e365-e366. Epub 2018 Mar 30.

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

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http://dx.doi.org/10.1111/jdv.14939DOI Listing
September 2018
2 Reads

Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue?

J Am Coll Cardiol 2018 Mar;71(10):1127-1129

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

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http://dx.doi.org/10.1016/j.jacc.2018.01.018DOI Listing