Research & Literature

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(8)):909-917 doi:10.1038/gim.2016.213.

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

Li Q, Kingman J, van de Wetering K, et al.

The Journal of investigative dermatology 2017; (137(5)):1025-1032 doi:10.1016/j.jid.2016.11.042.

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.

Moitra K, Garcia S, Jaldin M, et al.

International journal of molecular sciences 2017; (18(7)) doi:10.3390/ijms18071488.

Oral administration of pyrophosphate inhibits connective tissue calcification.

Dedinszki D, Szeri F, Kozák E, et al.

EMBO molecular medicine 2017; (9(11)):1463-1470 doi:10.15252/emmm.201707532.

Dermoscopic features of pseudoxanthoma elasticum.

Kawashima S, Togawa Y, Miyachi H, Matsue H

Clinical and experimental dermatology 2018; (43(2)):175-179 doi:10.1111/ced.13308.

Pseudoxanthoma elasticum-like papillary dermal elastolysis: a case report and review of literature.

Panagou E, Ratynska M, Heelan K

International journal of dermatology 2019; (58(1)):93-97 doi:10.1111/ijd.14093.

Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum.

Anzai F, Kunii H, Kanno Y, et al.

Journal of cardiology cases 2017; (16(4)):101-104 doi:10.1016/j.jccase.2017.05.001.

Coquille d'oeuf in young patients affected with Pseudoxantoma elasticum.

Murro V, Mucciolo DP, Giorgio D, et al.

Ophthalmic genetics 2019; (40(3)):242-246 doi:10.1080/13816810.2019.1627466.

Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum.

Bartstra JW, de Jong PA, Kranenburg G, et al.

Atherosclerosis 2020; (292()):37-41 doi:10.1016/j.atherosclerosis.2019.10.004.

Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study.

Gliem M, Birtel J, Herrmann P, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2020; (258(2)):311-318 doi:10.1007/s00417-019-04551-4.

Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum.

Gutierrez-Cardo A, Lillo E, Murcia-Casas B, et al.

Journal of clinical medicine 2020; (9(5)) doi:10.3390/jcm9051393.

The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum.

Risseeuw S, Ossewaarde-van Norel J, van Buchem C, et al.

American journal of ophthalmology 2020; (220()):82-90 doi:10.1016/j.ajo.2020.07.022.

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.

Li D, Ryu E, Saeidian AH, et al.

The British journal of dermatology 2021; (184(6)):1170-1174 doi:10.1111/bjd.19576.

Cutaneous and oral manifestations of pseudoxanthoma elasticum: clinicopathological features of an uncommon disorder.

Teixeira LR, Chahud F, Simão JCL, et al.

Clinical and experimental dermatology 2021; (46(4)):745-748 doi:10.1111/ced.14549.

ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.

Shimada BK, Pomozi V, Zoll J, et al.

International journal of molecular sciences 2021; (22(9)) doi:10.3390/ijms22094555.

Angioid Streaks in Pseudoxanthoma Elasticum.

Mandura RA, Radi RE

Cureus 2021; (13(6)):e15720 doi:10.7759/cureus.15720.

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

Ralph D, Nitschke Y, Levine MA, et al.

PLoS genetics 2022; (18(4)):e1010192 doi:10.1371/journal.pgen.1010192.

Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification.

Soma K, Watanabe K, Izumi M

Scientific reports 2022; (12(1)):19852 doi:10.1038/s41598-022-23892-5.

Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum.

Fésűs L, Kiss N, Farkas K, et al.

Archives of dermatological research 2023; (315(7)):1897-1908 doi:10.1007/s00403-023-02557-x.

Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report.

Almutairi R, Al-Sabah H

Cureus 2023; (15(10)):e47041 doi:10.7759/cureus.47041.

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging.

Risseeuw S, Pilgrim MG, Bertazzo S, et al.

Ophthalmology science 2024; (4(2)):100416 doi:10.1016/j.xops.2023.100416.

Increased Intracranial Arterial Pulsatility and Microvascular Brain Damage in Pseudoxanthoma Elasticum.

Bartstra JW, van den Beukel T, Kranenburg G, et al.

AJNR. American journal of neuroradiology 2024; (45(4)):386-392 doi:10.3174/ajnr.A8212.

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

Dias MQ, Gouveia N, Félix R, et al.

European journal of ophthalmology 2025; (35(1)):112-118 doi:10.1177/11206721241247676.

A Plasma Pyrophosphate Cutoff Value for Diagnosing Pseudoxanthoma Elasticum.

Rubera I, Clotaire L, Laurain A, et al.

International journal of molecular sciences 2024; (25(12)) doi:10.3390/ijms25126502.

Pseudoxanthoma elasticum: An unique entity in the coronary surgery.

Aljasem H, Ali-Ghosh H, Kiran T, Ohri S

Perfusion 2025; (40(5)):1281-1283 doi:10.1177/02676591241288180.

The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.

Clotaire L, Rubera I, Duranton C, et al.

Trials 2025; (26(1)):30 doi:10.1186/s13063-024-08666-w.

Choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report.

Beuran DI, Constantin C, Șerban RC, et al.

Romanian journal of ophthalmology 2024; (68(4)):470-475 doi:10.22336/rjo.2024.85.

Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.

Nagarajan DR, Mani Jacob D, Kakade S

Cureus 2025; (17(8)):e89237 doi:10.7759/cureus.89237.

Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis (PXE-PDE) in an Elderly Female: A Rare Diagnostic Entity.

Alshehri N, Alsergani R, Alqerafi A, et al.

Clinical, cosmetic and investigational dermatology 2025; (18()):2451-2455 doi:10.2147/CCID.S548675.

The TEMP-PREVENT trial: a study protocol for a randomized, double-blind, placebo-controlled clinical trial of etidronate for treatment in young adult patients with pseudoxanthoma elasticum.

Harmsen IM, Haverkamp M, van den Beukel TC, et al.

Trials 2025; (26(1)):431 doi:10.1186/s13063-025-09064-6.

REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE).

Martin L, Spiering W, Aelbrecht K, et al.

Annales de dermatologie et de venereologie 2026; (153(1)):103440 doi:10.1016/j.annder.2025.103440.

Arterial stiffness is related to a higher risk of cardiovascular events in patients with pseudoxanthoma elasticum (PXE).

Haverkamp M, de Jong PA, Visseren FL, Spiering W

Vascular medicine (London, England) 2026; (31(1)):19-27 doi:10.1177/1358863X251394284.