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Muzamil Amin Chisti, Yousef Binamer, Abdullah Alfadley, Abdulmonem Almutawa
D-penicillamine (DPA)-induced pseudo-pseudoxanthoma elasticum (PXE) and elastosis perforans serpiginosa (EPS) has been reported in the past, but most of the treatment modalities used before have a sub.optimal response. We report a case of DPA-induced pseudo-PXE with extensive EPS who had an excellent rapid response to acitretin. To the best of our knowledge no such report has been published in the past, even though there is a single report of effectiveness of isotretinoin in elastosis perforans serpiginosa...
January 2019: Annals of Saudi Medicine
Jianhe Huang, Adam E Snook, Jouni Uitto, Qiaoli Li
Loss-of-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum (PXE) and type 2 generalized arterial calcification of infancy (GACI), heritable ectopic mineralization disorders without effective treatment. ABCC6 encodes the putative efflux transporter ABCC6 which is predominantly expressed in the liver. While the substrate of ABCC6 remains unknown, recent studies demonstrated that PXE is a metabolic disorder caused by reduced circulating levels of pyrophosphate (PPi), a potent mineralization inhibitor...
January 10, 2019: Journal of Investigative Dermatology
M Van Gils, L Nollet, Ewout Verly, N Deianova, O M Vanakker
Pseudoxanthoma elasticum is an autosomal recessive genodermatosis with variable expression, due to mutations in the ABCC6 or ENPP1 gene. It is characterized by elastic fiber mineralization and fragmentation, resulting in skin, eye and cardiovascular symptoms. Significant advances have been made in the last 20 years with respect to the phenotypic characterization and pathophysiological mechanisms leading to elastic fiber mineralization. Nonetheless, the substrates of the ABCC6 transporter - the main cause of PXE - remain currently unknown...
January 4, 2019: Cellular Signalling
Stephen H Tsang, Tarun Sharma
Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include angioid streaks (Fig. 38.1), reticular macular dystrophy, speckled appearance temporal to the macula (peau d'orange, like the dimpled texture of an orange peel), drusen of the optic nerve, and vitelliform-like deposits. Peau d'orange may precede the development of an angioid streak...
2018: Advances in Experimental Medicine and Biology
Victoria Mitre, Danielle Brown, Thuy Phung, Raegan D Hunt
A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ...
January 2019: Pediatric Dermatology
Qiaoli Li, Jouni Uitto
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is an autosomal recessive disease characterized by deposition of calcium hydroxyapatite in the skin, eyes, and cardiovascular system, with protean manifestations (Li et al., 2016; Li and Uitto, 2013; Neldner, 1988). The classic form of PXE is late-onset and slow-progressing, and the major clinical problems relate to loss of vision and development of cardiovascular complications (Neldner, 1988). The classic form of PXE is caused by loss-of-function mutations in the ABCC6 gene encoding ATP-binding cassette subfamily C, member 6 (ABCC6), a putative transmembrane efflux transporter protein expressed primarily in the liver and kidneys...
December 2018: Journal of Investigative Dermatology. Symposium Proceedings
Maurizio Battaglia Parodi, Francesco Romano, Alessandro Marchese, Alessandro Arrigo, Victor Llorenç, Maria Vittoria Cicinelli, Francesco Bandello, Alfredo Adán
PURPOSE: To evaluate the efficacy of intravitreal anti-VEGF injections in choroidal neovascularization (CNV) related to pattern dystrophy-like deposit in pseudoxanthoma elasticum (PXE). METHODS: One-year prospective, interventional study. Nine eyes were recruited in the ophthalmology departments of San Raffaele University and University of Barcelona. Each patient underwent best corrected visual acuity (BCVA) measurement on ETDRS chart, slit-lamp biomicroscopy, fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT)...
November 23, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Viola Pomozi, Charnelle B Julian, Janna Zoll, Kevin Pham, Sheree Kuo, Natália Tőkési, Ludovic Martin, András Váradi, Olivier Le Saux
Pseudoxanthoma elasticum (PXE) is a heritable disease caused by ABCC6 deficiency. Patients develop ectopic calcification in skin, eyes and vascular tissues. ABCC6, primarily found in liver and kidneys, mediates the cellular efflux of ATP, which is rapidly converted into pyrophosphate (PPi), a potent inhibitor of calcification. PXE patients and Abcc6-/- mice display reduced PPi levels in plasma and peripheral tissues. PXE is currently incurable, although some palliative treatments exist. In recent years, we have successfully developed therapeutic methodologies to compensate the PPi deficit in animal models and humans...
November 20, 2018: Journal of Investigative Dermatology
Piet Borst, András Váradi, Koen van de Wetering
Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape. Nevertheless, it took until 2013 to identify the cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in aberrant calcification. The mechanism found was not only biochemically interesting but also points to possible new treatments for PXE, a disease that has remained untreatable...
November 13, 2018: Trends in Biochemical Sciences
Qiao Sun, Weijun Wang, Lifang Wu, Lu Cheng, Xuemei Tong, Xun Xu
PURPOSE: To identify the clinical characteristics and pathogenic genes among a Chinese family with angioid streaks and to assess a novel splicing mutation at the transcriptional and translational levels. METHODS: Consenting family members were clinically evaluated, and blood samples were collected for targeted exome capture sequencing and/or Sanger sequencing. The two affected siblings were assessed by multimodal fundus imaging. ABCC6 splicing patterns were analysed by RNA identification and quantification using the proband's peripheral blood mononuclear cells...
October 17, 2018: Acta Ophthalmologica
Johannes Birtel, Moritz Lindner, Divyansh K Mishra, Philipp L Müller, Doris Hendig, Philipp Herrmann, Frank G Holz, Monika Fleckenstein, Martin Gliem, Peter Charbel Issa
IMPORTANCE: The diagnostic accuracy of different retinal imaging modalities to detect active choroidal neovascularization (CNV) in pseudoxanthoma elasticum (PXE) is essential to enable a correct diagnosis but currently poorly understood. BACKGROUND: Optical coherence tomography (OCT), fluorescein angiography (FA) and optical coherence tomography angiography (OCT-A) are employed in daily practice but a systematic comparison of these imaging techniques is lacking...
August 31, 2018: Clinical & Experimental Ophthalmology
V Pipelart, S Leruez, L Martin, N Navasiolava, S Henni, J-M Ebran
PURPOSE: To study the prevalence of fundus anomalies among patients with pseudoxanthoma elasticum as a function of their age. MATERIAL AND METHODS: All patients have had a complete ophthalmologic examination in multidisciplinary consultation for PXE in a national reference center. RESULTS: Hundred and fifty-eight patients (60 men and 98 women aged from 10 to 90 years old, mean 45±17 years) were included in a cross-sectional retrospective study...
September 2018: Journal Français D'ophtalmologie
Qiaoli Li, Jianhe Huang, Anthony B Pinkerton, Jose Luis Millan, Bertrand D van Zelst, Michael A Levine, John P Sundberg, Jouni Uitto
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter ABCC6. It was recently shown that the absence of ABCC6-mediated adenosine triphosphate release from the liver and, consequently, reduced inorganic pyrophosphate levels underlie the pathogenesis of PXE. Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading inorganic pyrophosphate, we hypothesized that reducing TNAP levels either by genetic or pharmacological means would lead to amelioration of the ectopic mineralization phenotype in the Abcc6-/- mouse model of PXE...
August 18, 2018: Journal of Investigative Dermatology
Qiaoli Li, Joshua Kingman, John P Sundberg, Michael A Levine, Jouni Uitto
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. It has been suggested that administration of bisphosphonates, stable and non-hydrolyzable PPi analogs, could counteract ectopic mineralization in these disorders...
July 20, 2018: Oncotarget
Emmanuel Letavernier, Gilles Kauffenstein, Léa Huguet, Nastassia Navasiolava, Elise Bouderlique, Ellie Tang, Léa Delaitre, Dominique Bazin, Marta de Frutos, Clément Gay, Joëlle Perez, Marie-Christine Verpont, Jean-Philippe Haymann, Viola Pomozi, Janna Zoll, Olivier Le Saux, Michel Daudon, Georges Leftheriotis, Ludovic Martin
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models. METHODS: We conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from Abcc6 -/- mice at various ages...
September 2018: Journal of the American Society of Nephrology: JASN
Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Federica Boraldi, Daniela Quaglino, Gianni Virgili, Stanislao Rizzo
PURPOSE: To study peripapillary comet lesions (PCL) in Italian patients affected with pseudoxanthoma elasticum (PXE). METHODS: Retrospective review of fundoscopic and swept-source (SS) optical coherence tomography (OCT) images of patients with PXE examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Careggi Teaching Hospital of Florence from 2012 to 2017. RESULTS: From 148 eyes of 74 patients affected with PXE, we identified 24 eyes of 14 patients (11 were female) with a mean age of 39 years (range, 20-58 years) characterized by peripapillary comet lesions...
September 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Vinod Kumar
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...
June 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
Annelotte Vos, Guido Kranenburg, Pim A de Jong, Willem P T M Mali, Wim Van Hecke, Ronald L A W Bleys, Ivana Isgum, Aryan Vink, Wilko Spiering
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. METHODS: Post mortem total body CT scans were obtained from two PXE patients (a 69-year-old male and 77-year-old female)...
August 2018: Insights Into Imaging
Guido Kranenburg, Annette F Baas, Pim A de Jong, Folkert W Asselbergs, Frank L J Visseren, Wilko Spiering
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.3421C > T, c.4182delG, c.3775delT, c.2787+1G > T), together accounting for half of all ABCC6 mutations identified in PXE patients from the Dutch population, in a Dutch high vascular risk cohort (n = 7893)...
May 22, 2018: European Journal of Medical Genetics
Juan Luis Carrillo-Linares, María Inmaculada García-Fernández, María José Morillo, Purificación Sánchez, José Rioja, Francisco Javier Barón, María José Ariza, Dominic J Harrington, David Card, Federica Boraldi, Daniela Quaglino, Pedro Valdivielso
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 K1 -dependent proteins and -metabolites and whether parenteral administration of phytomenadione was effective in modulating their levels. Methods: We included eight PXE patients with typical clinical symptoms (skin, retina, and vascular calcification) and two ABCC6 causative mutations; 13 clinically unaffected first-degree patients' relatives (9 carrying one ABCC6 mutation and 4 non-carriers)...
2018: Frontiers in Medicine
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