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    1 OF 36

    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 Jun 23. 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, PA 19107, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, 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 ATP release from the liver and consequently reduced plasma PPi levels underlie PXE. This study examined whether reduced levels of circulating PPi, an anti-mineralization 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 Jun 5. Epub 2017 Jun 5.
    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 May 29. Epub 2017 May 29.
    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 May 10. 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 Apr 26. 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.
    J Cutan Med Surg 2017 Mar 1:1203475417699407. Epub 2017 Mar 1.
    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 Jan 19. 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

    CHORIOCAPILLARIS SIGNAL VOIDS IN MATERNALLY INHERITED DIABETES AND DEAFNESS AND IN PSEUDOXANTHOMA ELASTICUM.
    Retina 2017 Jan 13. Epub 2017 Jan 13.
    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

    Spontaneous Dislocation of Trabeculectomy Scleral Flap in the Anterior Chamber in a Patient With Pseudoxanthoma Elasticum.
    J Glaucoma 2017 Feb;26(2):e105-e106
    Manchester Royal Eye Hospital, Manchester, UK.
    We report a case of a 54-year-old man, known to have pseudoxanthoma elasticum (PXE), who had a trabeculectomy in his left eye for secondary glaucoma following blunt trauma. Ten years after augmented trabeculectomy, the patient presented to casualty clinic with an inferiorly dislocated, anterior chamber (AC), scleral trabeculectomy flap. Corrected vision was hand movement with an intraocular pressure of 17 mm Hg. Read More

    Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum.
    J Biol Chem 2017 Feb 19;292(5):1559-1572. Epub 2016 Dec 19.
    From the Department of Microbiology and Molecular Genetics, University of Pittsburgh, School of Medicine, Pittsburgh, Pennsylvania 15219
    ABC transporters are polytopic membrane proteins that utilize ATP binding and hydrolysis to facilitate transport across biological membranes. Forty-eight human ABC transporters have been identified in the genome, and the majority of these are linked to heritable disease. Mutations in the ABCC6 (ATP binding cassette transporter C6) ABC transporter are associated with pseudoxanthoma elasticum, a disease of altered elastic properties in multiple tissues. Read More

    Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE.
    Atherosclerosis 2017 Jan 13;256:7-14. Epub 2016 Nov 13.
    Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands. Electronic address:
    Background And Aims: Pseudoxanthoma elasticum (PXE) is a monogenetic disorder with progressive calcifications of the skin, the Bruch's membrane in the eyes and the arterial wall. Vascular disease is considered to be very prevalent, but the whole-body distribution of arterial calcifications in PXE is unknown. We aimed to systematically investigate arterial calcifications in PXE. Read More

    Increased vascular occlusion in patients with pseudoxanthoma elasticum.
    Vasa 2017 01 8;46(1):47-52. Epub 2016 Dec 8.
    1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
    Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive inherited multisystem disorder of the connective tissue caused by a loss-of-function mutation of the ABCC6 gene. It can affect the cardiovascular system, presumably leading to a high prevalence of atherosclerosis.

    Patients And Methods: 46 PXE patients and 18 controls underwent an angiological examination consisting of measurement of ankle-brachial index (ABI), strain-gauge arterial reserve (SGAR), arterial resting perfusion, pulse wave index (PWI), central pulse wave velocity, and ultrasound examination. Read More

    Automated macular choroidal thickness measurement by swept-source optical coherence tomography in pseudoxanthoma elasticum.
    Int J Retina Vitreous 2016 13;2:15. Epub 2016 Jun 13.
    Unit of Macula, Department of Ophthalmology, University and Polytechnic Hospital La Fe, Bulevar Sur s/n, 46026 Valencia, Spain ; RETICS RD12/0034 Enfermedades oculares: «Prevención, detección precoz y tratamiento de la patología ocular prevalente degenerativa y crónica», Instituto de Salud Carlos III, Madrid, Spain.
    Introduction: Pseudoxanthoma elasticum (PXE) typically involves elastic fibers in blood vessels and Bruch membrane. Our purpose was to analyze retinal and choroidal macular thickness in patients with angioid streaks due PXE compared with a control group.

    Methods: Best-corrected visual acuity (BCVA), axial length (AL), and macular swept-source optical coherence tomography were obtained. Read More

    Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6(-/-) Mice.
    J Invest Dermatol 2017 Mar 5;137(3):595-602. Epub 2016 Nov 5.
    Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA. Electronic address:
    Soft-tissue calcification is associated with aging, common conditions such as diabetes or hypercholesterolemia, and with certain genetic disorders. ABCC6 is an efflux transporter primarily expressed in liver facilitating the release of adenosine triphosphate from hepatocytes. Within the liver vasculature, adenosine triphosphate is converted into pyrophosphate, a major inhibitor of ectopic calcification. Read More

    Untargeted Metabolomics Analysis of ABCC6-Deficient Mice Discloses an Altered Metabolic Liver Profile.
    J Proteome Res 2016 Dec 3;15(12):4591-4600. Epub 2016 Nov 3.
    Department of Clinical Biochemistry, Pharmacology, Odense University Hospital , Odense 5000, Denmark.
    Loss-of-function mutations in the transmembrane ABCC6 transport protein cause pseudoxanthoma elasticum (PXE), an ectopic, metabolic mineralization disorder that affects the skin, eye, and vessels. ABCC6 is assumed to mediate efflux of one or several small molecule compounds from the liver cytosol to the circulation. Untargeted metabolomics using liquid chromatography-mass spectrometry was employed to inspect liver cytosolic extracts from mice with targeted disruption of the Abcc6 gene. Read More

    Comet Lesions in Patients with Pseudoxanthoma Elasticum.
    Turk J Ophthalmol 2015 Dec 5;45(6):268-270. Epub 2015 Dec 5.
    Yeditepe University Faculty of Medicine, Department of Ophthalmology, İstanbul, Turkey.
    Pseudoxanthoma elasticum (PXE) is a genetic multisystemic disorder affecting the skin, eyes and cardiovascular system. Basic fundoscopic findings in PXE result from Bruch's membrane involvement. The most important fundoscopic findings are angioid streaks. Read More

    Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation.
    J Cutan Pathol 2016 Nov 12;43(11):1021-1024. Epub 2016 Aug 12.
    Dermatology Clinic, University of Catania, Catania, Italy.
    Pseudoxanthoma elasticum is a rare congenital inherited elastolytic disorder that has sometimes been observed in association with transepidermal elimination of altered and calcified elastic fibers resulting in elastosis perforans serpiginosa-like changes. In this case, histopathology is usually performed to rule out other conditions. The case of a 38-year-old woman with two slowly enlarging asymptomatic plaques occurring on the neck and surrounded by coalescing yellowish papules with a typical cobblestone appearance, evaluated by polarized light dermoscopy and reflectance confocal microscopy with histopathologic correlations, is described. Read More

    Oral warning signs of elastic pseudoxanthoma.
    Womens Health (Lond) 2016 Sep 15;12(5):492-495. Epub 2016 Sep 15.
    School of Dentistry, Federal University of Juiz de Fora, Juiz de Fora, Brazil
    The pseudoxanthoma elasticum is a multisystemic heritable disease that primarily affects the connective tissue. It has been characterized by fragmentation and calcification of elastic fibers that can lead to complications of skin and cardiovascular system and changes in retina. Involvement of the oral mucosa has been described like white patches striated especially in the mucosa of both upper and lower lips. Read More

    Approach to the management of pregnancy in patients with pseudoxanthoma elasticum: a review.
    J Obstet Gynaecol 2016 Nov 13;36(8):1061-1066. Epub 2016 Sep 13.
    b Internal Medicine Unit, 'Virgen de la Victoria' University Hospital , Málaga , Spain.
    Management of pregnancy in patients with rare diseases is often guided by incomplete knowledge because of a lack of high-quality case control studies or single-centre experience. Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that results in calcification of elastic fibres of the skin, retina, and arteries, leading to skin lesions, eventual central visual loss, and potential arterial insufficiency in most patients. It is due to mutations in ABCC6, which encodes the eponymous membrane transport protein. Read More

    Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum.
    PLoS One 2016 13;11(9):e0162337. Epub 2016 Sep 13.
    Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
    Background: Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. Read More

    Pseudoxanthoma Elasticum: report of a case with a novel gene mutation.
    Dermatol Online J 2016 Jun 16;22(6). Epub 2016 Jun 16.
    3rd Radio Battalion at Marine Corps Base Hawaii, Kaneohe, Hawaii.
    Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. PXE is caused by mutations in the ABCC6 gene but the specific pathophysiology of this condition remains unknown. We present a case of a patient who was diagnosed with PXE after experiencing vision loss following minor ocular trauma. Read More

    Angioid streaks in aagenaes syndrome.
    Int Ophthalmol 2016 Sep 10. Epub 2016 Sep 10.
    Clinic of Rheumatology, University Hospital "St. Ivan Rilski", Medical University-Sofia, Urvich Street 13, 1612, Sofia, Bulgaria.
    Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6. Read More

    [Pseudoxanthoma elasticum: A disorder with different manifestations].
    Ned Tijdschr Geneeskd 2016 ;160:D203
    Universitair Medisch Centrum Utrecht, Utrecht.
    Background: Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive inheritable disorder characterized by progressive elastic fibre calcification.

    Case Description: Here we describe two patients with different presentations of PXE. Patient A, an 11-year-old girl, visited the dermatologist because of yellow papules (pseudoxanthomas) on the side of her neck. Read More

    Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
    Hum Mutat 2016 Nov 23;37(11):1190-1201. Epub 2016 Aug 23.
    Department of General Pediatrics, Muenster University Children's Hospital, Albert-Schweitzer-Campus 1, Muenster, 48149, Germany.
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP1), encoded by ENPP1, is a plasma membrane protein that generates inorganic pyrophosphate (PPi ), a physiologic inhibitor of hydroxyapatite formation. In humans, variants in ENPP1 are associated with generalized arterial calcification of infancy, an autosomal-recessive condition causing premature onset of arterial calcification and intimal proliferation resulting in stenoses. ENPP1 variants also cause pseudoxanthoma elasticum characterized by ectopic calcification of soft connective tissues. Read More

    Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-).
    Oncotarget 2016 Jul 20. Epub 2016 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 ABCC6 gene, resulting in reduced plasma pyrophosphate (PPi) levels. There is no effective treatment for these disorders. Read More

    β-Thalassemia and ocular implications: a systematic review.
    BMC Ophthalmol 2016 Jul 8;16:102. Epub 2016 Jul 8.
    1st Department of Ophthalmology, Athens University, Mesogeion 154, Athens, 11527, Greece.
    Background: Beta-thalassemia is a severe genetic blood disorder caused by a mutation in the gene encoding for the beta chains of hemoglobin. Individuals with beta-thalassemia major require regular lifelong Red Blood Cell transfusions to survive. Ocular involvement is quite common and may have serious implications. Read More

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