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    1 OF 35

    Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
    J Dermatol 2017 Feb 10. 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 Jan 19. Epub 2017 Jan 19.
    Department of Dermatology and Cutaneous Biology, The PXE International Center of Excellence in Research and Clinical Care.
    Pseudoxanthoma elasticum (PXE), 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 PXE, 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 PXE 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 2016 Dec 30. Epub 2016 Dec 30.
    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 Jan 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 2016 Nov 5. 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

    Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum.
    Invest Ophthalmol Vis Sci 2016 Jun;57(7):3323-30
    Department of Ophthalmology, University of Bonn, Bonn, Germany 2Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany.
    Purpose: To characterize atrophy of the outer retina and the retinal pigment epithelium in patients with pseudoxanthoma elasticum (PXE).

    Methods: In this retrospective cross-sectional study, the frequency and phenotypic characteristics of manifest atrophy were investigated in 276 eyes of 139 patients using color fundus photography, fundus autofluorescence (AF) imaging, and spectral domain optical coherence tomography. Progression rates of atrophy were quantified in eyes with longitudinal AF recordings. Read More

    [Peripheral artery disease in patients younger than 50 years old: Which etiology?].
    Ann Cardiol Angeiol (Paris) 2016 Sep 16;65(4):275-85. Epub 2016 Jun 16.
    Imagerie cœur-vaisseaux, centre hospitalier universitaire, hôpital Pontchaillou, 2, rue Henri-Le-Guilloux, 35033 Rennes, France; Université de Rennes 1, Inserm, centre d'investigation clinique CIC 1414, 35033 Rennes, France. Electronic address:
    Peripheral arterial disease (PAD) encompasses disease of all arteries of the body except the coronary arteries. The main etiology whatever the patient's age is atherosclerosis. Different etiologies can induce PAD especially when patients are younger than 50 years old and have no cardiovascular risk factors (smoking, hypertension, diabetes…). Read More

    Visual impairment in pseudoxanthoma elasticum: a survey of 53 patients from Turkey.
    Eur J Ophthalmol 2016 Aug 6;26(5):449-53. Epub 2016 May 6.
    School of Medicine, Department of Biostatistics, Bezmialem Vakif University, Istanbul - Turkey.
    Purpose: To estimate the age at onset and severity of ophthalmologic aspects of pseudoxanthoma elasticum (PXE).

    Methods: Medical records of 53 patients with PXE were evaluated. Findings at initial presentation, including refraction, best-corrected visual acuity (BCVA), and biomicroscopic and funduscopic examination were explored. Read More

    [Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleeding in children].
    Arch Pediatr 2016 Jun 25;23(6):591-4. Epub 2016 Apr 25.
    Service de pédiatrie IV, hôpital d'enfants de Rabat, faculté de médecine et de pharmacie de Rabat, université Mohamed V-Suissi, Rabat, Maroc.
    Introduction: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding. Read More

    Angioid Streaks in Types I and II Congenital Dyserythropoietic Anaemia (CDA).
    Klin Monbl Augenheilkd 2016 Apr 26;233(4):482-7. Epub 2016 Apr 26.
    Department of Ophthalmology, University Hospital Zurich, Switzerland.
    Background. Angioid streaks (AS) are visible irregular breaks in Bruch's membrane, extending radially from the optic nerve head and with overlaying atrophic retinal pigment epithelium. In 50 % of patients, AS are associated with Pseudoxanthoma elasticum, Ehlers-Danlos syndrome, sickle cell anaemia or Paget's disease. Read More

    Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association.
    Indian Dermatol Online J 2016 Mar-Apr;7(2):103-6
    Department of Dermatology, Venereology and Leprosy, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India.
    Elastosis perforans serpiginosa (EPS), characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1) Idiopathic; (2) reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3) the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature. Read More

    [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
    Ann Dermatol Venereol 2016 Apr 2;143(4):279-83. Epub 2016 Mar 2.
    Clinique dermatologique, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
    Background: Pseudoxanthoma elasticum (PXE)-like syndrome is characterized by the association of PXE and cutis laxa (CL) features with a deficiency of vitamin K-dependent clotting factors. It was first described in 1971 and was identified as a distinct genetic entity in 2007 with analysis of the GGCX (γ-glutamyl carboxylase) gene, which is involved in congenital deficiency in vitamin K-dependent clotting factors. Here we report a new case of this extremely rare syndrome. Read More

    New insights into the roles of the N-terminal region of the ABCC6 transporter.
    J Bioenerg Biomembr 2016 Jun 4;48(3):259-67. Epub 2016 Mar 4.
    Department of Sciences, University of Basilicata, 85100, Potenza, Italy.
    ABCC6 is a human ATP binding cassette (ABC) transporter of the plasma membrane associated with Pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by ectopic calcification of elastic fibers in dermal, ocular and vascular tissues. Similar to other ABC transporters, ABCC6 encloses the core structure of four domains: two transmembrane domains (TMDs) and two nucleotide binding domains (NBDs) but also an additional N-terminal extension, including a transmembrane domain (TMD0) and a cytosolic loop (L0), which is only found in some members of ABCC subfamily, and for which the function remains to be established. To investigate the functional roles of this N-terminal region, we generated several domain deletion constructs of ABCC6, expressed in HEK293 and polarized LLC-PK1 cells. Read More

    New perspectives on rare connective tissue calcifying diseases.
    Curr Opin Pharmacol 2016 Jun 27;28:14-23. Epub 2016 Feb 27.
    The Roslin Institute, Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG Scotland, United Kingdom. Electronic address:
    Connective tissue calcifying diseases (CTCs) are characterized by abnormal calcium deposition in connective tissues. CTCs are caused by multiple factors including chronic diseases (Type II diabetes mellitus, chronic kidney disease), the use of pharmaceuticals (e.g. Read More

    Ocular manifestations of genetic skin disorders.
    Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.
    The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.
    Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

    Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.
    J Invest Dermatol 2016 Mar;136(3):550-6
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:
    Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditions with overlapping clinical features include generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Molecular genetic investigations have revealed mutations in the genes physiologically involved in generation of inorganic pyrophosphate and inorganic phosphate, and the findings suggest a unifying pathomechanism relating to reduced inorganic pyrophosphate/inorganic phosphate ratio. Read More

    [Treatment with ranibizumab for choroidal neovascularization secondary to a pseudoxanthoma elasticum: Results of the French observational study PiXEL].
    J Fr Ophtalmol 2016 Apr 2;39(4):370-5. Epub 2016 Feb 2.
    Novartis Pharma France, 2, rue Lionel-Terray, 92500 Rueil-Malmaison, France.
    Introduction: Pseudoxanthoma elasticum (PXE), a rare hereditary connective tissue disorder, may be complicated by angioid streaks (AS) and choroidal neovascularization (CNV), which may lead to irreversible loss of visual acuity (VA). Here we describe the safety and efficacy of ranibizumab in patients with CNV secondary to PXE.

    Methods: A multicenter (n=23), observational study of a retrospective/prospective cohort, performed under real world conditions in France in all patients with CNV secondary to PXE who received at least one ranibizumab injection as of October 2011. Read More

    Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.
    Curr Neurol Neurosci Rep 2016 Feb;16(2):19
    Department of Neurology, Stritch School of Medicine, Loyola University Chicago, 2160 S. First Avenue, Maguire Building, Room 2700, Maywood, IL, 60153, USA.
    The neurocutaneous disorders (NCDs) embrace an extensive group of developmental disorders associated with involvement of the skin, central nervous system (CNS), and/or the peripheral nervous system (PNS). The neurocutaneous manifestations relate to the common ectodermal origin of these organs. This review intended for the practicing clinical neurologist focuses on selected aspects of the NCDs primarily those associated with cerebrovascular disease. Read More

    Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature.
    Oral Surg Oral Med Oral Pathol Oral Radiol 2016 Jan 28;121(1):e6-9. Epub 2015 Sep 28.
    Azienda Ospedaliera San Paolo, U.O. Odontostomatologia II, Milan, Italy; Università degli Studi di Milano, Dipartimento di Scienze Biomediche, Chirurgiche e Odontoiatriche, Milan, Italy.
    Pseudoxanthoma elasticum (PXE), which is a genetic, multi-target disorder characterized by progressive calcification and fragmentation of elastic fibers, affects several organs, including the eyes, skin, and cardiovascular system. Diagnosis of PXE is currently based on cutaneous and ocular signs, histopathologic findings, and a patient's family history. PXE-related oral mucosal lesions are rarely reported, possibly due to the potential for misdiagnosis as Fordyce spots; however, when such lesions are reported, they are primarily localized to the vestibular mucosa of the lower lip. Read More

    Fractionated Carbon Dioxide Laser Treatment of Fibroelastolytic Papulosis With Excellent Cosmetic Result and Resolution of Pruritus.
    J Drugs Dermatol 2015 Nov;14(11):1354-7
    Fibroelastolytic papulosis (FEP) consists of two dermatological conditions with clinical and histological similarities: pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis (PXE-PDE) and white fibrous papulosis of neck (WFPN). There is no effective documented treatment of FEP that we found in the published medical literature. We present a case of a Caucasian man with FEP who underwent fractionated carbon dioxide (CO2) laser treatment and achieved excellent cosmetic results and resolution of pruritus after three treatment sessions with no recurrence six-months post treatment. Read More

    Pseudoxanthoma elasticum.
    Handb Clin Neurol 2015 ;132:215-21
    Department of Child Neurology, Nationwide Children's Hospital, Ohio State University College of Medicine, Columbus, OH, USA.
    Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. The deterioration of elastic fibers leads to characteristic yellowish papules and plaques (pseudoxanthomas) and retinal angioid streaks. Although these findings may begin in childhood, the diagnosis is typically not made until the second or third decade after the skin and retinal findings become more prominent. Read More

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