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    1770 results match your criteria Pseudoxanthoma Elasticum

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    [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
    Zhonghua Er Ke Za Zhi 2017 Nov;55(11):858-861
    Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020, China.
    Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. Read More

    Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report.
    Breast J 2017 Nov 5. Epub 2017 Nov 5.
    Division of Surgical Senology, European Institute of Oncology, Milano, Italy.
    Pseudoxanthoma elasticum is a systemic metabolic disease presenting calcifications and progressive fragmentation of elastic fibers. Actually, no targeted therapies are available for the treatment; only prevention of complications is possible. Classically, pseudoxanthoma elasticum is a "benign" disease, without cancer association. Read More

    Calciphylaxis with Pseudoxanthoma Elasticum-like Changes: A Case Series.
    J Cutan Pathol 2017 Oct 31. Epub 2017 Oct 31.
    The Ronald O. Perelman Department of Dermatology, Section of Dermatopathology, New York University, New York, NY.
    Background: Calciphylaxis and pseudoxanthoma elasticum (PXE) are rare, clinically distinct, disorders that share a common feature of cutaneous calcification that vary widely in their cutaneous presentation.

    Methods: We conducted a descriptive, retrospective review of biopsy specimens collected over a two-year period. Only specimens with a histologic and clinical diagnosis of calciphylaxis were included in the review. Read More

    A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy.
    BMC Ophthalmol 2017 Oct 4;17(1):184. Epub 2017 Oct 4.
    Department of Ophthalmology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki City, Osaka, 569-8686, Japan.
    Background: To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic retinopathy (DR).

    Case Presentation: A 47-year-old man with PXE presented with angioid streaks and DR in both eyes, and bilateral panretinal photocoagulation was performed for treatment. Vitrectomy had previously been performed in his right eye for vitreous hemorrhage due to PDR. Read More

    Ultrastructural aspects of pseudoxanthoma elasticum.
    An Bras Dermatol 2017 Jul-Aug;92(4):527-530
    Dermatology Service, Pontifícia Universidade Católica do Rio Grande do Sul (PUC-RS) - Porto Alegre (RS), Brazil.
    We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Read More

    ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.
    J Ophthalmol 2017 20;2017:1079687. Epub 2017 Aug 20.
    Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
    Purpose: To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS).

    Patients And Methods: This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Read More

    The ABCC6 Transporter: A New Player in Biomineralization.
    Int J Mol Sci 2017 Sep 11;18(9). Epub 2017 Sep 11.
    Faculty of Medicine, University of Nice-Sophia Antipolis, 06107 Nice, France.
    Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive. Read More

    Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum.
    Exp Cell Res 2017 Nov 4;360(2):153-162. Epub 2017 Sep 4.
    Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, Georgstraße 11, 32545 Bad Oeynhausen, Germany.
    Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder which is caused by ABCC6 (ATP-binding cassette subfamily C member 6) gene mutations. Characteristic hallmarks of PXE are progressive calcification and degradation of the elastic fibers in skin, cardiovascular system and ocular fundus. Since the underlying pathomechanisms of PXE remain unidentified, the aim of this study was to get new insights into PXE pathophysiology by characterizing dermal myofibroblast differentiation. Read More

    Pseudoxanthoma elasticum-like changes in nonuremic calciphylaxis: Case series and brief review of a helpful diagnostic clue.
    J Cutan Pathol 2017 Dec 19;44(12):1064-1069. Epub 2017 Sep 19.
    Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.
    Calciphylaxis is a rare syndrome of vascular calcification with thrombosis that occurs most often in patients with end-stage renal disease, and it frequently portends a guarded prognosis. Rarely, nonuremic calciphylaxis (NUC) may occur; in this context, a strongly supportive histology is crucial in establishing the diagnosis. Herein, we describe 2 cases of NUC associated with pseudoxanthoma elasticum-like changes, identified in both initial nondiagnostic and subsequent diagnostic biopsy specimens. Read More

    Retina 2017 Aug 9. Epub 2017 Aug 9.
    *Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milan, Italy; and †G.B. Bietti Foundation for Study and Research in Ophthalmology, IRCCS, Rome, Italy.
    Purpose: To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies.

    Methods: Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. Read More

    Treatment of Pseudoxanthoma elasticum-like papillary dermal elastolysis with non-ablative fractional resurfacing laser resulting in clinical and histologic improvement in Elastin and Collagen.
    J Cosmet Laser Ther 2017 Jul 31. Epub 2017 Jul 31.
    a Department of Dermatology and Cutaneous Biology , Sidney Kimmel Medical College , 833 Chestnut Suite #740, Philadelphia , PA 19107.
    Objective: Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) is a rare skin condition seen predominantly in elderly females. These asymptomatic lesions are brought to the dermatologist's attention due to patient's displeasure in their appearance. We report a case of a 28-year old female with PXE-PDE on the right neck treated with Non-Ablative Fractional Resurfacing (NAFR). Read More

    Oral administration of pyrophosphate inhibits connective tissue calcification.
    EMBO Mol Med 2017 Nov;9(11):1463-1470
    Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary
    Various disorders including pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI), which are caused by inactivating mutations in ABCC6 and ENPP1, respectively, present with extensive tissue calcification due to reduced plasma pyrophosphate (PPi). However, it has always been assumed that the bioavailability of orally administered PPi is negligible. Here, we demonstrate increased PPi concentration in the circulation of humans after oral PPi administration. Read More

    ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
    Int J Mol Sci 2017 Jul 11;18(7). Epub 2017 Jul 11.
    Laboratory of Translational Genomics, The Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20885, USA.
    Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. Read More

    Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum.
    Bone 2017 Oct 27;103:88-92. Epub 2017 Jun 27.
    PXE Health and Research Center, University Hospital of Angers, Angers, France; MitoVasc, UMR CNRS 6015 - Inserm 1083, School of Medicine, UBL University, Angers, France; Laboratory of Physiology and Molecular Medicine - LP2M, and University Hospital of Nice, Nice, France. Electronic address:
    Background And Aims: Pseudoxanthoma elasticum (PXE; OMIM 264800, prevalence 1/25,000 to 1/50,000) is an autosomal recessive multisystem disease due to deficiency in ABCC6, an ATP-binding cassette, sub-family C transporter. The PXE phenotype is mainly characterized by progressive ectopic calcification of connective tissues (namely skin, retinal Bruch's membrane and peripheral arteries) but the impact of PXE on bone structure is currently unknown. The present study sought to investigate bone mineralization and its potential link with vascular calcification in a large cohort of PXE patients with inherited mutations of the ABCC6 gene. Read More

    Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6(-/-) Mouse Model of PXE.
    J Invest Dermatol 2017 Nov 23;137(11):2336-2343. Epub 2017 Jun 23.
    Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and the PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:
    Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused in most cases by inactivating mutations in the ABCC6 gene. It was recently discovered that absence of ABCC6-mediated adenosine triphosphate release from the liver and consequently reduced plasma inorganic pyrophosphate (PPi) levels underlie PXE. This study examined whether reduced levels of circulating PPi, an antimineralization factor, is the sole mechanism of PXE. Read More

    Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.
    Sci Transl Med 2017 Jun;9(393)
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
    Biallelic mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a disease characterized by calcification in the skin, eyes, and blood vessels. The function of ATP-binding cassette C6 (ABCC6) and the pathogenesis of PXE remain unclear. We used mouse models and patient fibroblasts to demonstrate genetic interaction and shared biochemical and cellular mechanisms underlying ectopic calcification in PXE and related disorders caused by defined perturbations in extracellular adenosine 5'-triphosphate catabolism. Read More

    Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
    Curr Osteoporos Rep 2017 Aug;15(4):255-270
    Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer-Campus 1, D-48149, Münster, Germany.
    Purpose Of Review: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease.

    Recent Findings: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC. Read More

    Detection of nonexudative choroidal neovascularization secondary to angioid streaks using optical coherence tomography angiography.
    Eur J Ophthalmol 2017 Aug 30;27(5):e140-e143. Epub 2017 Aug 30.
    Department of Ophthalmology, University of Athens, Georgios Gennimatas General Hospital - Greece.
    Purpose: To present a case of nonexudative choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum. The lesion was monitored over an 8-month period with the use of optical coherence tomography angiography.

    Methods: Case report. Read More

    ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype.
    Cell Mol Biol Lett 2017 4;22. Epub 2017 Apr 4.
    Department of Sciences, University of Basilicata, Via dell'Ateneo Lucano, 85100 Potenza, Italy.
    Background: Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists. It is caused by inactivating mutations in the gene encoding for the ATP-binding cassette, sub-family C member 6 transporter (ABCC6), which is mainly expressed in the liver. Read More

    Adaptive Optics Scanning Laser Ophthalmoscopy and Multimodal Imaging of Peau D'Orange in Pseudoxanthoma Elasticum.
    Ophthalmic Surg Lasers Imaging Retina 2017 May;48(5):436-440
    A 41-year-old male with pseudoxanthoma elasticum who presented with progressive vision loss in his left periphery is discussed. Bilateral angioid streaks, optic disc drusen, choroidal neovascularization, and peau d'orange were present. Imaging of the area with peau d'orange with adaptive optics scanning laser ophthalmoscopy and en face optical coherence tomography at Bruch's membrane (BM) revealed a pattern identical to the patches of peau d'orange visible with conventional fundus imaging techniques. Read More

    Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules.
    PLoS One 2017 11;12(5):e0177375. Epub 2017 May 11.
    Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
    Gamma-glutamyl carboxylase (GGCX) gene mutation causes GGCX syndrome (OMIM: 137167), which is characterized by pseudoxanthoma elasticum (PXE)-like symptoms and coagulation impairment. Here, we present a 55-year-old male with a novel homozygous deletion mutation, c.2,221delT, p. Read More

    Ranibizumab for choroidal neovascularization secondary to pseudoxanthoma elasticum: 4-year results from the PIXEL study in France.
    Graefes Arch Clin Exp Ophthalmol 2017 Aug 10;255(8):1651-1660. Epub 2017 May 10.
    Novartis Pharma S.A.S, Rueil-Malmaison, France.
    Purpose: To evaluate the long-term effectiveness and safety of ranibizumab 0.5 mg in patients with choroidal neovascularization (CNV) secondary to pseudoxanthoma elasticum (PXE) in a real-world setting.

    Methods: A descriptive, observational, multicenter study in a retrospective and prospective cohort was conducted in France that included patients who had received at least one injection of ranibizumab 0. Read More

    Pseudoxanthoma elasticum.
    Orphanet J Rare Dis 2017 May 10;12(1):85. Epub 2017 May 10.
    Division of Medical Genetics, University of Versailles - Saint Quentin en Yvelines, Paris-Saclay University, 2 avenue de la source de la Bièvre, F-78180, Montigny, France.
    Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. Read More

    The Evolution of Outer Retinal Tubulation, a Neurodegeneration and Gliosis Prominent in Macular Diseases.
    Ophthalmology 2017 Sep 26;124(9):1353-1367. Epub 2017 Apr 26.
    Department of Ophthalmology, University of Alabama School of Medicine, Birmingham, Alabama.
    Purpose: To document outer retinal tubulation (ORT) formation in advanced retinal disorders.

    Design: Retrospective, observational study.

    Participants: Consecutive cases with retinal diseases showing outer retinal disruption and atrophy of the retinal pigment epithelium (RPE) associated with ORT on spectral-domain (SD) optical coherence tomography (OCT) at the final available visit. Read More

    Pyrophosphate Supplementation Prevents Chronic and Acute Calcification in ABCC6-Deficient Mice.
    Am J Pathol 2017 Jun 14;187(6):1258-1272. Epub 2017 Apr 14.
    Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii. Electronic address:
    Soft tissue calcification occurs in several common acquired pathologies, such as diabetes and hypercholesterolemia, or can result from genetic disorders. ABCC6, a transmembrane transporter primarily expressed in liver and kidneys, initiates a molecular pathway inhibiting ectopic calcification. ABCC6 facilitates the cellular efflux of ATP, which is rapidly converted into pyrophosphate (PPi), a major calcification inhibitor. Read More

    Rheumatological complications of beta-thalassaemia: an overview.
    Rheumatology (Oxford) 2017 Mar 22. Epub 2017 Mar 22.
    Department of Neurosurgery, Lebanese American University Medical Center2Department of Internal Medicine, American University of Beirut Medical Center3Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University Medical Center, Beirut, Lebanon4Lupus Research Unit, The Rayne Institute, Division of Women's Health, St Thomas Hospital, London, UK5Department of Rheumatology, Dubai Hospital, Dubai, UAE6Division of Rheumatology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
    Beta-thalassaemia, an autosomal recessive haemoglobinopathy, ranks among the most frequent monogenetic diseases globally. The severe form of the disease, beta-thalassaemia major, is accompanied by progressive involvement of multiple organ systems as a result of the disease pathophysiology as well as iron overload from blood transfusions on a regular basis. Some of the manifestations might also be caused by medications used to manage iron overload. Read More

    Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.
    J Invest Dermatol 2017 Apr;137(4):790-795
    PXE International, Washington, District of Columbia, USA.
    Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. Read More

    Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis: A Single Case Report.
    J Cutan Med Surg 2017 Jul/Aug;21(4):345-347. Epub 2017 Mar 10.
    1 University of Toronto Faculty of Medicine, Toronto, ON, Canada.
    Background: Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE), a rare acquired elastolytic disorder, occurs in postmenopausal, elderly women and is characterized by soft, white-yellow papules that localize on the neck and supraclavicular regions and often coalesce into cobblestone plaques. It has no systemic involvement and is histologically distinct from the clinically similar inherited pseudoxanthoma elasticum.

    Case Summary: A 64-year-old Caucasian woman presented with a 2-year history of multiple, asymptomatic soft yellow 1- to 2-mm papules on her neck, which were increasing in number. Read More

    Bidimensional unconstrained optimization approach to EMD: An algorithm revealing skin perfusion alterations in pseudoxanthoma elasticum patients.
    Comput Methods Programs Biomed 2017 Mar 28;140:233-239. Epub 2016 Dec 28.
    University of Angers, Angers Hospital, Laboratoire de Physiologie et d'Explorations Vasculaires, UMR CNRS 6214-INSERM 1083, Angers, France.
    Background And Objective: Pseudoxanthoma elasticum (PXE) is an inherited and systemic metabolic disorder that affects the skin, leading among other things to a peau d'orange appearance. Unfortunately, PXE is still poorly understood and there is no existing therapy to treat the disease. Because the skin is the first organ to be affected in PXE, we propose herein a study of skin microvascular perfusion. Read More

    Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
    J Dermatol 2017 Jun 10;44(6):644-650. Epub 2017 Feb 10.
    Department of Dermatology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
    Pseudoxanthoma elasticum (PXE) is a hereditary disease, causing calcification and degeneration of elastic fibers, which affects the skin, eye, cardiovascular systems and gastrointestinal tract. PXE is caused by mutations in the ABCC6 gene. Neither detailed nor large-scale analyses have been accomplished in Japanese patients with PXE. Read More

    Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature.
    J Neurol Sci 2017 Feb 28;373:167-172. Epub 2016 Dec 28.
    Department of Vascular Medicine, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands. Electronic address:
    Background: Pseudoxanthoma elasticum (PXE) is a monogenetic disease with progressive calcification of arteries and potential risk of stroke. To gain insights in the cerebral involvement in PXE, we evaluated prevalence and determinants of cerebral disease in our PXE cohort and performed a systematic review of literature.

    Methods: Systematic history taking concerning cerebral disorders was performed in our PXE cohort. Read More

    GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
    Int J Mol Sci 2017 Jan 25;18(2). Epub 2017 Jan 25.
    Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium.
    Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding GGCX gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or bone manifestations. Read More

    Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.
    J Invest Dermatol 2017 May 19;137(5):1025-1032. Epub 2017 Jan 19.
    Department of Dermatology and Cutaneous Biology, The PXE International Center of Excellence in Research and Clinical Care, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
    Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys. The fundamental question on pathogenesis of pseudoxanthoma elasticum, whether lack of ABCC6 expression in liver or kidney is the primary site of molecular pathology in peripheral tissues, has not been addressed. We generated a series of Abcc6(-/-) rats as models of pseudoxanthoma elasticum depicting ectopic mineralization in the skin, eyes, and the arterial blood vessels. Read More

    Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
    Genet Med 2017 Aug 19;19(8):909-917. Epub 2017 Jan 19.
    AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, Paris, France.
    Purpose: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. Read More

    Retina 2017 Nov;37(11):2008-2014
    Vitreous, Retina, Macula Consultants of New York, New York, New York.
    Purpose: To evaluate the pattern of choriocapillaris signal voids in maternally inherited diabetes and deafness and in pseudoxanthoma elasticum in eyes before the development of any geographic atrophy.

    Methods: The choriocapillaris under the central macula was imaged with the Optovue RTVue XR Avanti using a 10 μm slab thickness. Automatic local thresholding of the resultant raw data extracted areas of absent flow signal, called signal voids, and these were counted and logarithmically binned. Read More

    Hydrophilic polymer vasculopathy with coinciding pseudoxanthoma elasticum-like changes in an amputated toe.
    J Cutan Pathol 2017 Apr 2;44(4):393-396. Epub 2017 Feb 2.
    Department of Pathology, SUNY Downstate Medical Center, Brooklyn, New York.
    For the past decades, hydrophilic polymer gel coating have been widely used on endovascular devices to decrease friction and to aid with binding and delivering of medications in drug-eluting stents. In the recent years, hydrophilic polymer emboli disease has been recognized as an iatrogenic adverse effect which has led to considerable morbidity and mortality of patients. This under-recognized embolic phenomenon now has reproducible pathognomonic histologic findings. Read More

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