1,806 results match your criteria Pseudoxanthoma Elasticum
Ophthalmic Surg Lasers Imaging Retina 2018 Jun;49(6):402-408
Background And Objective: To report the association of angioid streaks in patients with Pseudoxanthoma elasticum (PXE) with reticular pseudodrusen (RPD), thin choroid, and retinal pigment epithelium (RPE) atrophy using swept-source optical coherence tomography (SS-OCT) and short-wave autofluorescence (SWAF).
Patients And Methods: Retrospective cross-sectional study. Records of consecutive patients with angioid streaks due to PXE, who presented with a decrease of vision due to choroidal neovascularization (CNV), were reviewed for best-corrected visual acuity, color fundus photographs, SS-OCT, SWAF, and red-free images with special emphasis on presence or absence of RPD, subfoveal choroidal thickness (SFCT), and RPE atrophy. Read More
Int J Dermatol 2018 Jun 15. Epub 2018 Jun 15.
Department of Dermatology, University College London Hospital, London, UK.
Insights Imaging 2018 Jun 1. Epub 2018 Jun 1.
Department of Vascular Medicine, University Medical Center, Utrecht University, PO Box 85500, 3508 GA, Utrecht, The Netherlands.
Objectives: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, characterised by elastic fibre degeneration and calcifications in multiple organ systems. Computed tomography (CT) imaging is a potential method to monitor disease progression in PXE patients; however, this method has not been validated. The aim of this study was to correlate histological and computed tomographic findings in PXE patients to investigate the ability of CT scanning to detect these alterations. Read More
Eur J Med Genet 2018 May 22. Epub 2018 May 22.
Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, the Netherlands. Electronic address:
Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive systemic calcification disorder, is caused by mutations in the ABCC6-gene and associated with severe visual impairment and peripheral arterial disease. Given the progress in development of a therapy for PXE, more precise estimations of its prevalence are warranted.
Methods: We genotyped the four most common ABCC6 mutations (c. Read More
Dermatol Pract Concept 2018 Apr 30;8(2):75-77. Epub 2018 Apr 30.
Department of Pathology, Patna Medical College and Hospital, Patna, Bihar, India.
Periumbilical perforating pseudoxanthoma elasticum (PPPXE) usually presents with well-defined periumbilical yellowish atrophic plaques with keratotic papules at the periphery. It is considered a variant of hereditary pseudoxanthoma elasticum or a localized acquired cutaneous dermatosis. The lesions usually occur in the periumbilical area in obese, multiparous women. Read More
Brain Pathol 2018 May 3. Epub 2018 May 3.
Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Ischemic stroke causes a high mortality and morbidity worldwide. It results from a complex interplay of incompletely known environmental and genetic risk factors. We investigated the ABCC6 gene as a candidate risk factor for ischemic stroke because of the increased ischemic stroke incidence in the autosomal recessive disorder pseudoxanthoma elasticum, caused by biallelic pathogenic ABCC6 variants, the higher cardiovascular risk in heterozygous carriers and the established role of ABCC6 dysfunction in myocardial ischemia. Read More
Front Med (Lausanne) 2018 16;5:86. Epub 2018 Apr 16.
Internal Medicine, Hospital Clínico Universitario Virgen de la Victoria, Málaga, Spain.
Introduction: Pseudoxanthoma elasticum (PXE) is a rare disease caused by mutations in the ABCC6 gene. Vitamin K1 is involved in the posttranslational carboxylation of some proteins related to inhibition of the calcification process. Our aim was to investigate, in patients affected by PXE, baseline levels of vitamin K-dependent proteins and -metabolites and whether parenteral administration of phytomenadione was effective in modulating their levels. Read More
Eur J Paediatr Neurol 2018 Jul 12;22(4):725-728. Epub 2018 Apr 12.
Rare Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. Read More
J Cutan Pathol 2018 Jul 8;45(7):498-503. Epub 2018 May 8.
Department of Pathology and Laboratory Medicine, University of California, Sacramento, California.
Traditional histology relies on processing and physically sectioning either frozen or formalin-fixed paraffin-embedded (FFPE) tissue into thin slices (typically 4-6 μm) prior to staining and viewing on a standard wide-field microscope. Microscopy using ultraviolet (UV) surface excitation (MUSE) represents a novel alternative microscopy method that works with UV excitation using oblique cis-illumination, which can generate high-quality images from the cut surface of fresh or fixed tissue after brief staining, with no requirement for fixation, embedding and histological sectioning of tissue specimens. We examined its potential utility in dermatopathology. Read More
Retina 2018 Apr 12. Epub 2018 Apr 12.
Department of Ophthalmology, University Medical Center Utrecht, the Netherlands.
Purpose: To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality and similar data of late age-related macular degeneration patients.
Methods: Cross-sectional data of 195 patients with PXE were reviewed, including best-corrected visual acuity and imaging. The World Health Organisation criteria were used to categorize bilateral visual impairment. Read More
Joint Bone Spine 2018 Apr 6. Epub 2018 Apr 6.
Reference Centre for PXE, Angers University Hospital, 49933 Angers, France; Department of Dermatology, Angers University Hospital, 49933 Angers, France. Electronic address:
Intractable Rare Dis Res 2018 Feb;7(1):25-31
Department of Internal Medicine II-Cardiology, Pulmonology and Angiology, University Hospital Bonn, Bonn, Germany.
Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). Read More
J Eur Acad Dermatol Venereol 2018 Mar 10. Epub 2018 Mar 10.
Department of Life Sciences, University of Modena and Reggio Emilia, Via Campi 287, 41125, Modena, Italy.
J Am Coll Cardiol 2018 Mar;71(10):1127-1129
Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania.
J Am Coll Cardiol 2018 Mar;71(10):1117-1126
Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:
Background: In pseudoxanthoma elasticum (PXE), low pyrophosphate levels may cause ectopic mineralization, leading to skin changes, visual impairment, and peripheral arterial disease.
Objectives: The authors hypothesized that etidronate, a pyrophosphate analog, might reduce ectopic mineralization in PXE.
Methods: In the Treatment of Ectopic Mineralization in Pseudoxanthoma Elasticum trial, adults with PXE and leg arterial calcifications (n = 74) were randomly assigned to etidronate or placebo (cyclical 20 mg/kg for 2 weeks every 12 weeks). Read More
J Invest Dermatol 2018 Mar 6. Epub 2018 Mar 6.
MITOVASC-UMR CNRS 6015 INSERM U1083, Angers University, France; University Hospital of Angers, Angers, France.
Pseudoxanthoma elasticum (PXE) is a rare genetic condition primarily caused by hepatic ABCC6 transporter dysfunction. Most clinical manifestations of PXE are due to premature calcification of elastic fibers. However, the vascular impact of PXE is pleiotropic and remains ill defined. Read More
Eur J Hum Genet 2018 Jun 27;26(6):919-924. Epub 2018 Feb 27.
Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.
Graefes Arch Clin Exp Ophthalmol 2018 Apr 26;256(4):699-707. Epub 2018 Feb 26.
Ophthalmology Department, CHU Angers, Angers, France.
Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients. Read More
Dermatol Online J 2017 Sep 15;23(9). Epub 2017 Sep 15.
Division of Dermatology, Department of Medicine, University of Arizona, Tucson, Arizona.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs . Read More
Retin Cases Brief Rep 2018 Feb 13. Epub 2018 Feb 13.
Department of Ophthalmology, New York Eye and Ear Infirmary, Mount Sinai School of Medicine, New York, New York.
Purpose: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up.
Methods: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Read More
Atherosclerosis 2018 Mar 9;270:160-165. Epub 2018 Feb 9.
Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, The Netherlands. Electronic address:
Background And Aims: Patients with pseudoxanthoma elasticum (PXE), a monogenetic calcification disease, are at high vascular risk. Although the precise arterial phenotype remains unestablished, it is hypothesized that PXE predominantly affects the medial arterial layer leading to arterial stiffening. We aimed to test this hypothesis by measuring arterial wall characteristics in PXE and comparisons with the general population and diabetes mellitus type 2 (DM2), a condition typically associated with mixed intimal and medial arterial disease. Read More
Indian J Ophthalmol 2018 Feb;66(2):300
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Retina 2018 Jun;38(6):e43-e44
Department of Ophthalmology, Scientific Institute San Raffaele, University Vita-Salute, Milan, Italy.
An Bras Dermatol 2017 Nov-Dec;92(6):897-898
Department of Dermatology at Hospital do Servidor Público Estadual de São Paulo - São Paulo - SP, Brazil.
Circ Cardiovasc Imaging 2018 Jan;11(1):e007060
From the Departments of Nuclear Medicine (P.-J.M., F.L.) and Dermatology (L.M.), Angers University Hospital, France; CRCINA, Université de Nantes, Université d'Angers, CHU d'Angers, France (F.L.); Department of Physiology and Vascular Investigation, Nice University Hospital, France (G.L.); PXE Consultation Center, University Hospital of Angers, France (G.L., L.M., L.O.); MitoVasc Institute, UMR INSERM 1083/CNRS 6214 Angers University, France (L.M., L.O.); Department of Vascular Medicine, CHU de Rennes, France (L.O.); Univ Rennes, CHU Rennes, INSERM, CIC 1414, F-35000 Rennes, France (L.O.); and Department of Vascular Medicine, Centre Hospitalier de Redon, France (L.O.).
Ann Transl Med 2017 Dec;5(24):489
Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary.
Clin Exp Dermatol 2018 Mar 22;43(2):175-179. Epub 2017 Dec 22.
Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Pseudoxanthoma elasticum (PXE) is a disease characterized by aberrant mineralization of soft tissue and fragmentation of elastic fibres. It is often difficult to distinguish PXE clinically from pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-like PDE). However, we have identified that the dermoscopic findings in PXE include coalescing and reticulated yellow-white clods on a light purple-red background, whereas the dermoscopic findings in PXE-like PDE lack such a coloured background. Read More
Autops Case Rep 2017 Oct-Dec;7(4):18-21. Epub 2017 Dec 8.
University of Campinas (Unicamp), Hospital das Clínicas do Estado, Department of Dermatology and Pathology. Campinas, SP, Brazil.
Hemoglobin 2017 Jul - Nov;41(4-6):254-259. Epub 2017 Dec 11.
a Department of Medical Sciences, Section of Pediatrics , University of Ferrara , Ferrara , Italy.
Pseudoxanthoma elasticum-like (PXL) condition is one of the complications faced by patients with β-thalassemia major (β-TM). Histopathological features include abnormal, mineralized and fragmented elastic fibers in skin, eyes and arterial blood vessels (elastorrhexia). The pathogenesis of PXL lesions in β-TM is not yet completely understood. Read More
Invest Ophthalmol Vis Sci 2017 12;58(14):6159-6165
Department of Ophthalmology, University of Bonn, Bonn, Germany.
Purpose: To quantify lipofuscin-associated fundus autofluorescence in patients with pseudoxanthoma elasticum (PXE), a model disease for Bruch's membrane pathology.
Methods: In this prospective, monocenter, cross-sectional case-control study, 49 patients with PXE (mean age: 46 years, range 18-62) underwent quantitative fundus autofluorescence (qAF) imaging with a modified scanning laser ophthalmoscope containing an internal fluorescent reference for normalization of images. The mean qAF values of a circular ring centered on the fovea (qAF8) were measured and compared to 108 healthy controls (mean age 40 years, range 18-64). Read More
J Med Vasc 2017 Dec 31;42(6):333-337. Epub 2017 Oct 31.
Service de pédiatrie IV, hôpital d'Enfants, CHU Ibn Sina, faculté de médecine et de pharmacie, université Mohamed V, Rabat institut, avenue Ibn-Rochd, BP 6542, Rabat, Maroc.
Introduction: Vascular calcifications are associated with several diseases that affect vascular connective tissue and skin and cause considerable morbidity and mortality. The prototype of these conditions is pseudoxanthoma elasticum. We report, in this study, 4 pediatric cases of vascular calcifications diagnosed as elastic pseudoxanthoma. Read More
J Dermatol Sci 2018 Feb 22;89(2):201-204. Epub 2017 Nov 22.
Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy. Electronic address:
Zhonghua Er Ke Za Zhi 2017 Nov;55(11):858-861
Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020, China.
To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. 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
BMJ Case Rep 2017 Nov 9;2017. Epub 2017 Nov 9.
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Breast J 2018 May 5;24(3):385-387. 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
J Cutan Pathol 2018 Feb 12;45(2):118-121. Epub 2017 Dec 12.
The Ronald O. Perelman Department of Dermatology, Section of Dermatopathology, New York University, New York, New York.
Background: Calciphylaxis and pseudoxanthoma elasticum (PXE) are rare, clinically distinct disorders that share a common feature of cutaneous calcification and that vary widely in their cutaneous presentation.
Methods: We conducted a descriptive, retrospective review of biopsy specimens collected over a 2-year period. Only specimens with a histologic and clinical diagnosis of calciphylaxis were included in the review. Read More
J Eur Acad Dermatol Venereol 2018 Apr 30;32(4):e147-e149. Epub 2017 Oct 30.
Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, 852-8523, Nagasaki, Japan.
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
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
Korean J Ophthalmol 2017 10 29;31(5):462-463. Epub 2017 Aug 29.
Department of Ophthalmology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
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 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
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 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
Exp Cell Res 2017 11 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
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
Skinmed 2017 1;15(4):319-320. Epub 2017 Aug 1.
Division of Dermatology, Cooper Medical School of Rowan University, Camden, NJ.
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
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
EMBO Mol Med 2017 11;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 and , 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
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 gene. Read More