1,949 results match your criteria Pseudoxanthoma Elasticum


Goosebumps and angioid streaks in a patient with cerebrovascular disease.

Eur J Intern Med 2020 Jun 30. Epub 2020 Jun 30.

Dermatology Department, Hospital Arnau de Vilanova, Calle San Clemente, 12, 46015, Valencia, Spain.

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http://dx.doi.org/10.1016/j.ejim.2020.06.033DOI Listing

NOVEL METHOD FOR IMAGE AVERAGING OF OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IMAGES.

Retina 2020 Jun 26. Epub 2020 Jun 26.

Vitreous Retina Macula Consultants of New York, New York.

Purpose: To develop a method of averaging optical coherence tomography (OCT) angiography to improve visualization of choriocapillaris structure.

Methods: A stack of OCT angiographic data from vascular layers were placed into the red-green-blue channels of a conventional digital color image. The superficial plexus was placed in the blue channel, choriocapillaris in the green, and deep vascular plexus in the red channel. Read More

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http://dx.doi.org/10.1097/IAE.0000000000002877DOI Listing

Diagnosing Calciphylaxis: A Review With Emphasis on Histopathology.

Am J Dermatopathol 2020 Jul;42(7):471-480

Assistant Professor, Departments of Pathology and Dermatology, University of California, San Francisco, CA.

Calciphylaxis is a cutaneous vasculopathy with high morbidity and mortality characterized by vascular intimal fibrosis, calcification, stenosis, thrombosis, and eventual tissue death due to ischemia. Histopathologic diagnosis is often difficult, frequently necessitating multiple tissues samples due to lack of specific histopathologic features and subtle changes on biopsies of early lesions. In this study, we review the reported clinical and histopathologic features of calciphylaxis, correlating them with relevant imaging, ancillary studies, and pathophysiology. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001526DOI Listing

Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia.

Arch Soc Esp Oftalmol 2020 Jun 24. Epub 2020 Jun 24.

Departamento de Oftalmología, Hospital General, Valencia, España.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterised by elastic tissue alterations and caused by mutations in a single gene, ABCC6, on chromosome 16p that includes manifestations that are predominantly cutaneous, ocular and cardiovascular. PXE-like lesions in association with β-thalassemia have previously been reported in the literature in patients with β-thalassaemia intermediate and major, being clinically indistinguishable from classic PXE. The case is presented of a 10-year-old boy with β-thalassaemia minor and characteristic lesions of PXE. Read More

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http://dx.doi.org/10.1016/j.oftal.2020.05.018DOI Listing

Pseudoxanthoma elasticum and angioid streaks.

QJM 2020 Jun 5. Epub 2020 Jun 5.

Department of Ophthalmology, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India.

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http://dx.doi.org/10.1093/qjmed/hcaa190DOI Listing

Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients.

Aging Dis 2020 May 9;11(3):536-546. Epub 2020 May 9.

1Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Bad Oeynhausen, Germany.

The molecular processes of aging are very heterogenic and not fully understood. Studies on rare progeria syndromes, which display an accelerated progression of physiological aging, can help to get a better understanding. Pseudoxanthoma elasticum (PXE) caused by mutations in the () gene shares some molecular characteristics with such premature aging diseases. Read More

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http://dx.doi.org/10.14336/AD.2019.0610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220280PMC

Focal Dermal Elastosis: A Proposed Update to the Nomenclature.

Am J Dermatopathol 2020 May 28. Epub 2020 May 28.

The Robert Larner, M.D. College of Medicine at the University of Vermont, Burlington, VT.

Late-onset focal dermal elastosis is a clinical mimic of pseudoxanthoma elasticum that lacks associations with systemic disease. Although initial reports asserted that the disorder occurs only in the elderly, a growing body of case reports document cases in patients as young as 39 years. We present a case of a 59-year-old woman with this disorder. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001683DOI Listing

Elastosis perforans serpiginosa induced by d-penicillamine treated with cyclosporine and allopurinol.

Dermatol Ther 2020 May 27:e13692. Epub 2020 May 27.

Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Puerta del Mar, Cádiz, Spain.

Elastosis perforans serpiginosa (EPS) is a rare condition within the group of perforating dermatoses. It is characterized by the synthesis of anomalous elastic fibers that are eliminated through perforating channels (transepidermal elimination). It is classified into three subtypes. Read More

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http://dx.doi.org/10.1111/dth.13692DOI Listing

Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report.

J Thromb Thrombolysis 2020 May 26. Epub 2020 May 26.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Pseudoxanthoma elasticum is a rare cause for ischaemic stroke. Little is known about acute and secondary prevention strategies in these subjects given the increased risk of gastrointestinal and urinary bleedings. Here we present the case of a 62 years old man affected by pseudoxanthoma elasticum who presented with acute ischaemic stroke and was successfully treated with intravenous thrombolysis. Read More

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http://dx.doi.org/10.1007/s11239-020-02150-3DOI Listing

[Choroidal Neovascularization by Pseudoxanthoma Elasticum with Vision Loss].

Klin Monbl Augenheilkd 2020 May 25. Epub 2020 May 25.

Praxis Dr. Rudolf Berret, Heilbronn.

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http://dx.doi.org/10.1055/a-1141-3659DOI Listing

Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.

Graefes Arch Clin Exp Ophthalmol 2020 May 22. Epub 2020 May 22.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.

Purpose: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE).

Materials And Methods: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Read More

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http://dx.doi.org/10.1007/s00417-020-04748-yDOI Listing

Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant.

Am J Ophthalmol 2020 May 19. Epub 2020 May 19.

Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, UK.

Purpose: To describe patients with late-onset Pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant.

Design: Retrospective observational case series.

Methods: Clinical evaluation, multimodal retinal imaging, genetic testing and molecular modeling. Read More

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http://dx.doi.org/10.1016/j.ajo.2020.05.009DOI Listing

Homology Modeling and Virtual Screening of Proteins Related to PXE and PXE-like Diseases: Insights for Overlapping Metabolites.

Curr Pharm Biotechnol 2020 May 19. Epub 2020 May 19.

Department of Genetic Engineering and Biotechnology, Shahjalal University of Science & Technology. Bangladesh.

The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in the ABCC6 but also ENPP1 and GGCX can cause resembling phenotypes. To get insights common pathway, the overlapping metabolites for these three proteins were predicted through 3D homology modeling and virtual screening. 3D homology models of ABCC6, ENPP1 and GGCX were generated by MODELLER program, which were further validated using RAMPAGE and ERRAT servers. Read More

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http://dx.doi.org/10.2174/1389201021666200519115032DOI Listing

Pulmonary Hypertension Complicating Pulmonary Artery Involvement in Pseudoxanthoma Elasticum.

Am J Respir Crit Care Med 2020 May 15. Epub 2020 May 15.

Hopital Bicetre, 41664, Le Kremlin-Bicetre, France.

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http://dx.doi.org/10.1164/rccm.202002-0248IMDOI Listing

White Fibrous Papulosis of the Axillae and Neck.

Cureus 2020 Apr 11;12(4):e7635. Epub 2020 Apr 11.

Dermatology, St. Joseph Dermatopathology, Houston, USA.

Fibroelastolytic papulosis of the neck (FEPN) consists of two disorders: white fibrous papulosis of the neck (WFPN) and pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE). The neck and supraclavicular areas are frequently involved; however, axillary involvement is significantly more rare, especially for white fibrous papulosis. Herein, we present an unusual case of white fibrous papulosis of the axillae, in addition to the neck, in a Caucasian woman. Read More

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http://dx.doi.org/10.7759/cureus.7635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213768PMC

Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum.

J Clin Med 2020 May 8;9(5). Epub 2020 May 8.

Department of Medicine and Dermatology, University of Málaga, Instituto de Investigación Biomédica de Málaga (IBIMA), 29010 Málaga, Spain.

Pseudoxanthoma elasticum (PXE) is a genetic disease characterized by the calcification of elastin fibers. Our aim was to quantify vascular calcification in the arteries and the deposition of 18F-sodium-fluoride (18F-NaF) in the skin and vessel walls with positron emission tomography/computed tomography. This was an observational study including 18 patients with PXE. Read More

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http://dx.doi.org/10.3390/jcm9051393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290446PMC

Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum.

Lasers Med Sci 2020 May 6. Epub 2020 May 6.

Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária Street, Budapest, H-1085, Hungary.

Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare autosomal recessive disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by mutations of the ABCC6 gene that leads to decreased serum levels of inorganic pyrophosphate (PPi) anti-mineralization factor. The occurrence of severe complications among PXE patients highlights the importance of early diagnosis so that prompt multidisciplinary care can be provided to patients. Read More

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http://dx.doi.org/10.1007/s10103-020-03027-wDOI Listing

Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease.

Kidney Dis (Basel) 2020 Mar 10;6(2):92-97. Epub 2020 Jan 10.

Universidad Simón Bolívar, Facultad de Ciencias de la Salud, Barranquilla, Colombia.

Background: Pseudoxanthoma elasticum (PXE; OMIM 264800) is an inherited multisystem disorder associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and brush membrane in the eye. Carriers exhibit characteristic lesions in the cardiovascular system, and peripheral and coronary arterial disease as well as mitral valvulopathy often present as a cardiovascular feature of this disease. PXE and chronic kidney disease (CKD) share some common patterns in the vascular damage and in therapeutic approaches as well. Read More

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http://dx.doi.org/10.1159/000505026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154277PMC

Giant Idiopathic Angioid Streaks.

J Ophthalmic Vis Res 2020 Apr-Jun;15(2):240-245. Epub 2020 Apr 6.

Retina and Uvea Services, Dr R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To present a case of gigantic idiopathic angioid streaks.

Case Report: A young male presented with macular choroidal neovascular membrane (CNVM) and peripheral retinal hemorrhages secondary to angioid streaks. Swept source optical coherence tomography (SSOCT) and ultrawide field imaging were performed. Read More

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http://dx.doi.org/10.18502/jovr.v15i2.6742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151496PMC

Angioid streaks and obstructive sleep apnea syndrome: are they related?

Sleep Breath 2020 Apr 16. Epub 2020 Apr 16.

Institut Català de Retina, ICR, Barcelona, Spain.

Background: Sleep apnea syndrome (OSAS) has been associated with different ocular manifestations including glaucoma, floppy eye syndrome, punctate keratitis, keratoconus, and optic neuropathy. Angioid streaks are mainly associated with pseudoxanthoma elasticum (PXE) although they can appear in other systemic conditions affecting the elastic fibers.

Methods: This is a prospective, cross-sectional study. Read More

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http://dx.doi.org/10.1007/s11325-020-02019-yDOI Listing

Pseudoxanthoma elasticum and caseous mitral annular calcification: rare association or coincidence?

Eur Heart J 2020 Apr 14. Epub 2020 Apr 14.

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, via Giustiniani 2, 35128 Padua, Italy.

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http://dx.doi.org/10.1093/eurheartj/ehaa223DOI Listing

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.

Clin Genet 2020 Jul 10;98(1):74-79. Epub 2020 May 10.

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

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial growth factor (VEGF) signaling, a molecule encoded by the VEGFA gene. As early detection and treatment is essential to preserve vision, prioritization of patients at risk is crucial, but impossible because of wide phenotypic variability and a lack of genotype-phenotype correlations for PXE. Read More

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http://dx.doi.org/10.1111/cge.13751DOI Listing

Macular choroidal thickness in patients with pseudoxanthoma elasticum measured by enhanced-depth imaging spectral-domain optical coherence tomography.

Int Ophthalmol 2020 Jul 27;40(7):1749-1758. Epub 2020 Mar 27.

Department of Ophthalmology, Málaga University Medical School, Malaga, Spain.

Background/objectives: To analyze macular choroidal thickness in patients with pseudoxanthoma elasticum (PXE) by enhanced depth imaging optical coherence tomography (EDI-OCT).

Subjects/methods: This is a prospective cross-sectional study. Sixty-eight eyes of 34 patients with PXE and 68 normal eyes of 34 controls were included to study the macular area with enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT). Read More

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http://dx.doi.org/10.1007/s10792-020-01343-2DOI Listing

Pseudoxanthoma elasticum presenting without typical skin changes.

Clin Exp Dermatol 2020 Jun 25;45(4):518-520. Epub 2020 Mar 25.

Departments of, Department of, Dermatology, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1111/ced.14177DOI Listing

Ethnogeographic and inter-individual variability of human ABC transporters.

Hum Genet 2020 May 23;139(5):623-646. Epub 2020 Mar 23.

Section of Pharmacogenetics, Department of Physiology and Pharmacology, Karolinska Institutet, 17177, Stockholm, Sweden.

ATP-binding cassette (ABC) transporters constitute a superfamily of 48 structurally similar membrane transporters that mediate the ATP-dependent cellular export of a plethora of endogenous and xenobiotic substances. Importantly, genetic variants in ABC genes that affect gene function have clinically important effects on drug disposition and can be predictors of the risk of adverse drug reactions and efficacy of chemotherapeutics, calcium channel blockers, and protease inhibitors. Furthermore, loss-of-function of ABC transporters is associated with a variety of congenital disorders. Read More

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http://dx.doi.org/10.1007/s00439-020-02150-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170817PMC

IS VAGINAL DELIVERY HARMFUL TO PATIENTS WITH PSEUDOXANTHOMA ELASTICUM?

Retin Cases Brief Rep 2020 Mar 20. Epub 2020 Mar 20.

Departments of Ophthalmology, and.

Background/purpose: To investigate the effect of a vaginal delivery (VD) on retinal pathology in patients with pseudoxanthoma elasticum.

Methods: Retrospective case series. All 14 consecutive women with pseudoxanthoma elasticum who visited the ophthalmology department during pregnancy and after delivery between 2010 and 2018 were included. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000997DOI Listing

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.

Curr Osteoporos Rep 2020 Jun;18(3):232-241

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Purpose Of Review: This review summarizes current understanding of generalized arterial calcification of infancy (GACI), emphasizing pathophysiology, clinical presentation, and approaches and controversies in management.

Recent Findings: Identification of causative ENPP1 mutations revealed that GACI arises from deficiencies in inorganic pyrophosphate (leading to calcifications) and adenosine monophosphate (leading to intimal proliferation). Identification of genotypic and phenotypic overlap with pseudoxanthoma elasticum and autosomal recessive hypophosphatemic rickets further advanced understanding of GACI as a complex, multisystemic disease. Read More

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http://dx.doi.org/10.1007/s11914-020-00577-4DOI Listing

Reversion of arterial calcification by elastin-targeted DTPA-HSA nanoparticles.

Eur J Pharm Biopharm 2020 May 6;150:108-119. Epub 2020 Mar 6.

Institute of Pharmaceutical Technology and Biopharmacy, University of Muenster, Corrensstraße 48, 48149 Muenster, Germany. Electronic address:

Generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE) are characterized by pathologic calcifications in the media of large- and medium sized arteries. GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. Different treatment approaches including bisphosphonates and orally administered pyrophosphate (PP) were investigated in recent years, but reversion of calcification could not be achieved. Read More

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http://dx.doi.org/10.1016/j.ejpb.2020.03.007DOI Listing

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.

Bone 2020 May 26;134:115300. Epub 2020 Feb 26.

Division of Nephrology and Hypertension, Departments of Medicine and Biochemistry & Molecular Biology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Electronic address:

Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of the ALPL gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP in healthy individuals is on cell surfaces richly in bone, liver, and kidney. Thus, TNSALP natural substrates accumulate extracellularly in HPP, including inorganic pyrophosphate (PPi), a potent inhibitor of hydroxyapatite crystal formation and growth. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233305PMC

Pseudoxanthoma elasticum-like papillary dermal elastolysis in non-exposed skin.

An Bras Dermatol 2020 Mar - Apr;95(2):247-249. Epub 2020 Feb 12.

Department of Pathology, Hospital Universitari Sagrat Cor-Grupo Quirón Salud, Barcelona, Spain.

Pseudoxanthoma elasticum-like papillary dermal elastolysis is an acquired elastic tissue disorder clinically similar to pseudoxanthoma elasticum in the absence of systemic involvement. Histopathologically, special staining of elastic fibers demonstrates a total or partial band-like loss of elastic fibers in the papillary dermis. Although ultraviolet radiation seems to be one of the main etiological factors in this entity, we report a case of pseudoxanthoma elasticum-like papillary dermal elastolysis on the neck of a woman who wore hijab. Read More

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http://dx.doi.org/10.1016/j.abd.2019.08.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175405PMC
May 2020
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Pruritic Periumbilical Plaque as a Presentation of a Rare Perforating Dermatosis.

Indian Dermatol Online J 2020 Jan-Feb;11(1):68-71. Epub 2020 Jan 13.

Department of Pathology, Yenepoya Medical College, Mangalore, Karnataka, India.

Perforating dermatoses are characterized by transepidermal elimination of altered dermal components or foreign particles. Owing to their common clinical presentation as umbilicated papules with a keratotic plug, histopathology and special staining play a very crucial role in the diagnosis. Perforating calcific elastosis, (periumbilical perforating pseudoxanthoma elasticum), an uncommon acquired localized cutaneous dermatoses, is characterized by transepidermal elimination of modified elastic fibres. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_95_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001405PMC
January 2020

Plasma inorganic pyrophosphate and alkaline phosphatase in patients with pseudoxanthoma elasticum.

Ann Transl Med 2019 Dec;7(24):798

Lipid and Arteriosclerosis Laboratory, Centro de Investigaciones Médico-Sanitarias (CIMES), University of Málaga, Málaga, Spain.

Background: Inorganic pyrophosphate (PPi) plays a major role inhibiting dystrophic calcification. The aim was to analyze levels of PPi in patients having pseudoxanthoma elasticum (PXE), and controls as well as the enzymes who regulate the PPi plasma concentration.

Methods: We collected fasting blood samples from PXE patients and age- and sex-matched controls in ethylenediamine tetraacetic acid (EDTA) and citrate-theophylline-adenosine-dipyridamole (CTAD) containing tubes. Read More

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http://dx.doi.org/10.21037/atm.2019.12.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6989879PMC
December 2019

Rare Co-occurrence of Beta-Thalassemia and : Novel Biomolecular Findings.

Front Med (Lausanne) 2019 23;6:322. Epub 2020 Jan 23.

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.

A number of beta-thalassemia patients, independently from the type of beta-thalassemia (β or β) and blood transfusion requirements, may develop, after puberty, dermal, cardiovascular, and ocular complications associated with an ectopic mineralization phenotype similar to that observed in another rare genetic disorder, namely, (PXE). To date, the causes of these alterations in beta-thalassemia patients are not known, but it has been suggested that they could be the consequence of oxidative stress-driven epigenetic regulatory mechanisms producing an down-regulation. Since, in the last years, several genes have been associated to the ectopic mineralization phenotype, this study, for the first time, applied, on beta-thalassemia patients with ectopic mineralization phenotype, a multigene testing strategy. Read More

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http://dx.doi.org/10.3389/fmed.2019.00322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6989569PMC
January 2020

Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report.

Eur J Case Rep Intern Med 2020 17;7(1):001260. Epub 2019 Dec 17.

Consorci Sanitari del Alt Penedes-Garraf, Nephrology Department, Barcelona, Spain.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications. PXE affects approximately 1 in 160,000 people, typically appearing as a formation of yellow papules containing abnormally calcified elastic fibres. The renal involvement of PXE has been reported. Read More

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http://dx.doi.org/10.12890/2019_001260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993917PMC
December 2019

Two cases of periumbilical perforating pseudoxanthoma elasticum with dermoscopic and histopathologic features.

Australas J Dermatol 2020 May 19;61(2):e217-e220. Epub 2020 Jan 19.

Department of Dermatology (OPD 18), Rajawadi Hospital, Mumbai, Maharashtra, India.

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http://dx.doi.org/10.1111/ajd.13243DOI Listing

Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls?

Acta Ophthalmol 2020 Jan 13. Epub 2020 Jan 13.

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

Purpose: Patients with pseudoxanthoma elasticum (PXE) develop calcification of Bruch's membrane (BM) and choroidal thinning, as well as calcification of intracranial arteries, leading to arterial stiffness. We investigated whether arterial stiffness is associated with choroidal thinning in PXE patients, besides the presumed effect of BM calcification.

Methods: Cross-sectional study with 75 PXE patients and 40 controls. Read More

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http://dx.doi.org/10.1111/aos.14346DOI Listing
January 2020

Multiple whitish papules on the posterior neck of an elderly woman.

An Bras Dermatol 2020 Jan - Feb;95(1):102-104. Epub 2019 Dec 18.

White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Read More

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http://dx.doi.org/10.1016/j.abd.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058867PMC

A Case Series of Pseudoxanthoma Elasticum-like Disorders.

Indian J Dermatol 2019 Nov-Dec;64(6):482-485

Department of Dermatology, King Abdulaziz University, Jeddah, Saudi Arabia.

Pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis and focal dermal elastosis are acquired noninflammatory elastic tissue disorders. The skin lesions clinically resemble PXE without systemic involvement. We report the clinicopathological features of five cases and discuss the pathogenesis and differential diagnosis. Read More

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http://dx.doi.org/10.4103/ijd.IJD_89_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862365PMC
January 2020

Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study.

Graefes Arch Clin Exp Ophthalmol 2020 Feb 20;258(2):311-318. Epub 2019 Dec 20.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Purpose: To evaluate the use of 2 mg intravitreal aflibercept for treatment of choroidal neovascularization (CNV) secondary to angioid streaks in patients with pseudoxanthoma elasticum (PXE).

Methods: In this 12-month prospective, open-label, uncontrolled, non-randomized interventional clinical trial, 15 PXE patients with CNV (mean age: 53 years, range 22-65) received one initial intravitreal injection of 2 mg aflibercept. Further injections were based on CNV activity at monthly examinations. Read More

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http://dx.doi.org/10.1007/s00417-019-04551-4DOI Listing
February 2020

Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.

Int J Mol Sci 2019 Dec 17;20(24). Epub 2019 Dec 17.

UMR S 1155 and Physiology Unit, AP-HP, Hôpital Tenon, Sorbonne Université and INSERM, F-75020 Paris, France.

Pseudoxanthoma elasticum is a rare disease mainly due to gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders associated to mutations of or . Patients affected by Pseudoxanthoma Elasticum seem also prone to develop kidney stones originating from papillary calcifications named Randall's plaque, and to a lesser extent may be affected by nephrocalcinosis. Read More

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http://dx.doi.org/10.3390/ijms20246353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940945PMC
December 2019

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Bone 2020 Mar 13;132:115190. Epub 2019 Dec 13.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integrin-binding sialoprotein (IBSP) also called bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), and dentin sialophosphoprotein (DSPP)]. Each SIBLING has at least one "acidic, serine- and aspartic acid-rich motif" (ASARM) and multiple Ser-x-Glu/pSer sequences that when phosphorylated promote binding of the protein to hydroxyapatite for regulation of biomineralization. Mendelian disorders from loss-of-function mutation(s) of the genes that encode the SIBLINGs thus far involve DSPP causing various autosomal dominant dysplasias of dentin but without skeletal disease, and DMP1 causing autosomal recessive hypophosphatemic rickets, type 1 (ARHR1). Read More

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http://dx.doi.org/10.1016/j.bone.2019.115190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271119PMC

[Pseudoxanthoma elasticum-like papillary dermal elastolysis: A case report].

Ann Dermatol Venereol 2020 Mar 12;147(3):194-197. Epub 2019 Dec 12.

Service de dermatologie, CHRU Besançon, 3, boulevard Alexandre-Fleming, 25000 Besançon, France.

Background: Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare disease clinically resembling pseudoxanthoma elasticum (PXE). Herein we report a typical case.

Patients And Methods: A 77-year-old woman consulted for an acquired papular eruption present for 4 years. Read More

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http://dx.doi.org/10.1016/j.annder.2019.09.609DOI Listing

IMPAIRED DARK ADAPTATION ASSOCIATED WITH A DISEASED BRUCH MEMBRANE IN PSEUDOXANTHOMA ELASTICUM.

Retina 2019 Dec 10. Epub 2019 Dec 10.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.

Purpose: To characterize dark adaptation in patients with pseudoxanthoma elasticum, a systemic disease leading to calcification of elastic tissue including the Bruch membrane.

Methods: In this prospective case-control study, dark adaptation thresholds were measured using a Goldmann-Weekers dark adaptometer. Additional assessments included best-corrected visual acuity testing, contrast sensitivity, low luminance deficit, and vision-related quality of life. Read More

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http://dx.doi.org/10.1097/IAE.0000000000002689DOI Listing
December 2019

A Helpful Clue to Calciphylaxis: Subcutaneous Pseudoxanthoma Elasticum-like Changes.

Am J Dermatopathol 2020 Jul;42(7):521-523

Department of Pathology, University of Illinois College of Medicine, Chicago, IL.

Calciphylaxis, otherwise known as calcific uremic arteriolopathy, is an aggressive disease characterized by painful, ischemic skin lesions with histologic findings of microvascular calcification involving the fat. It is most commonly seen in patients with end-stage renal disease who are on dialysis. Early diagnosis is pivotal for optimal management. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001577DOI Listing

Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum.

Atherosclerosis 2020 01 11;292:37-41. Epub 2019 Oct 11.

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

Background And Aims: In pseudoxanthoma elasticum (PXE), low levels of inorganic pyrophosphate result in extensive arterial calcification. Recently, the treatment of ectopic mineralization in the PXE (TEMP) trial showed that one year of treatment with etidronate halts progression of femoral artery calcification in PXE patients. The aim of this study was to test the efficacy of etidronate on calcification in different vascular beds. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.10.004DOI Listing
January 2020

Bidimensional Multiscale Fuzzy Entropy and Its Application to Pseudoxanthoma Elasticum.

IEEE Trans Biomed Eng 2020 Jul 15;67(7):2015-2022. Epub 2019 Nov 15.

Objective:  We propose a new bidimensional entropy measure and its multiscale form and evaluate their behavior using various synthetic and real images. The bidimensional multiscale measure finds application in helping clinicians for pseudoxanthoma elasticum (PXE) detection in dermoscopic images.

Method:  We developed bidimensional fuzzy entropy ( FuzEn) and its multiscale extension ( MSF) and then evaluated them on a set of synthetic images and texture datasets. Read More

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http://dx.doi.org/10.1109/TBME.2019.2953681DOI Listing

Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension.

Sci Rep 2019 11 8;9(1):16327. Epub 2019 Nov 8.

MitoVasc Institute, UMR CNRS 6015 - INSERM U1083, Angers University, Angers, France.

Pseudoxanthoma Elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Although arterial hypertension (AHT) has been reported in PXE patients, its impact on pathological manifestations has as yet been unexplored. We investigated the consequences of experimental AHT on Abcc6-/- PXE mouse models. Read More

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http://dx.doi.org/10.1038/s41598-019-52808-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6841718PMC
November 2019

Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.

Br J Dermatol 2019 Oct 24. Epub 2019 Oct 24.

MitoVasc Institute, UMR CNRS 6015/INSERM 1083, 49100, Angers, France.

Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations. No treatment is currently available for PXE. Read More

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http://dx.doi.org/10.1111/bjd.18632DOI Listing
October 2019
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Angioid Streaks and Other Retinopathy in Pseudoxanthoma Elasticum.

Authors:
Kuan-Jen Chen

JAMA Ophthalmol 2019 10 10;137(10):e193129. Epub 2019 Oct 10.

Department of Ophthalmology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taoyuan, Taiwan.

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http://dx.doi.org/10.1001/jamaophthalmol.2019.3129DOI Listing
October 2019
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