Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?

2011 ◽  
Vol 155 (11) ◽  
pp. 2855-2859 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Bart P. Leroy ◽  
Leon J. Schurgers ◽  
Cees Vermeer ◽  
Paul J. Coucke ◽  
...  
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Cutis Laxa ◽  
Ectopic Calcification ◽  
Atypical Presentation

scholarly journals Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis

2020 ◽  
Vol 22 (1) ◽  
pp. 278
Author(s):  
Jianjian Sun ◽  
Peilu She ◽  
Xu Liu ◽  
Bangjun Gao ◽  
Daqin Jin ◽  
...  
Keyword(s):  
Vitamin K ◽  
Cardiac Fibrosis ◽  
Clinical Manifestations ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Gla Protein ◽  
Ectopic Calcification ◽  
Transcription Activator ◽  
Multisystem Disorder ◽  
Ectopic Mineralization ◽  
Extensive Calcification

Pseudoxanthoma elasticum (PXE), caused by ABCC6/MRP6 mutation, is a heritable multisystem disorder in humans. The progressive clinical manifestations of PXE are accompanied by ectopic mineralization in various connective tissues. However, the pathomechanisms underlying the PXE multisystem disorder remains obscure, and effective treatment is currently available. In this study, we generated zebrafish abcc6a mutants using the transcription activator-like effector nuclease (TALEN) technique. In young adult zebrafish, abcc6a is expressed in the eyes, heart, intestine, and other tissues. abcc6a mutants exhibit extensive calcification in the ocular sclera and Bruch’s membrane, recapitulating part of the PXE manifestations. Mutations in abcc6a upregulate extracellular matrix (ECM) genes, leading to fibrotic heart with reduced cardiomyocyte number. We found that abcc6a mutation reduced levels of both vitamin K and pyrophosphate (PPi) in the serum and diverse tissues. Vitamin K administration increased the gamma-glutamyl carboxylated form of matrix gla protein (cMGP), alleviating ectopic calcification and fibrosis in vertebrae, eyes, and hearts. Our findings contribute to a comprehensive understanding of PXE pathophysiology from zebrafish models.

Cutis laxa-like pseudoxanthoma elasticum with ossification

2004 ◽  
Vol 43 (5) ◽  
pp. 375-378 ◽  
Author(s):  
Sevgi Bahadir ◽  
Umit Cobanoglu ◽  
Cigdem Siviloglu ◽  
Zerrin Kapicioglu ◽  
Merih Baykan
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Cutis Laxa

Osteoma cutis coexisting with cutis laxa-like pseudoxanthoma elasticum

2000 ◽  
Vol 43 (2) ◽  
pp. 337-339 ◽  
Author(s):  
Gwang Seong Choi ◽  
Dong-Seung Kang ◽  
Jae Joon Chung ◽  
Min-Geol Lee
Keyword(s):  
Pseudoxanthoma Elasticum ◽  
Cutis Laxa ◽  
Osteoma Cutis

scholarly journals Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

2017 ◽  
Vol 9 (393) ◽  
pp. eaal1669 ◽  
Author(s):  
Shira G. Ziegler ◽  
Carlos R. Ferreira ◽  
Elena Gallo MacFarlane ◽  
Ryan C. Riddle ◽  
Ryan E. Tomlinson ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Pseudoxanthoma Elasticum ◽  
Ectopic Calcification ◽  
Tissue Nonspecific Alkaline Phosphatase

scholarly journals Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India

2020 ◽  
Vol 63 (4) ◽  
pp. 198-201
Author(s):  
Sunayana Misra ◽  
Ravindra Kumar Saran
Keyword(s):  
Early Diagnosis ◽  
Patient Management ◽  
Arterial Wall ◽  
Pseudoxanthoma Elasticum ◽  
Phenotypic Heterogeneity ◽  
North India ◽  
Atypical Presentation ◽  
Skin Changes ◽  
Metabolic Defect

Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries. It shows characteristic yellowish papules on the skin around the nape of neck along with looseness of skin over flexural surfaces. PXE shows marked phenotypic heterogeneity. Complications related to arterial wall and retinal Bruchs’ membrane calcification occur later in life; early diagnosis therefore helps keep patient on follow up for development of the same. In Indian patients, classic skin changes may be missed clinically making histopathology pivotal in diagnosis and patient management.

scholarly journals Vascular Effects of Pseudoxanthoma Elasticum

2021 ◽  
Vol 5 (5) ◽  
pp. 453-461
Author(s):  
Erika Hubbard ◽  
Mark Lebwohl
Keyword(s):  
Vascular Disease ◽  
Peripheral Vascular Disease ◽  
Case Reports ◽  
Pseudoxanthoma Elasticum ◽  
The Body ◽  
Ectopic Calcification ◽  
Peripheral Vascular ◽  
Rete Mirabile ◽  
Pubmed Database ◽  
Carotid Rete Mirabile

Background: Pseudoxanthoma elasticum (PXE) is a rare hereditary disease caused by mutations in the ABCC6 gene, characterized by ectopic calcification of connective tissue throughout the body. Vascular conditions associated with PXE have been well-documented in the literature, but to our knowledge, analysis of the myriad of PXE case reports with associated vascular diseases in addition to larger cohort studies, has not been undertaken. Objective: To review existing literature reporting peripheral vascular disease (PVD), cardiovascular disease (CVD), cerebrovascular disease (CeVD), hypertension, and carotid rete mirabile (CRM) in PXE patients as of June 2021. Methods: A search of the PubMed database using the key words “pseudoxanthoma elasticum” and “vascular” was performed. Results: A total of 345 cases of PVD, 97 cases of CVD, and 123 case of CeVD were reported.  Additionally, 88 cases of hypertension and 5 cases of CRM were reported. Conclusions: PXE patients are at risk of developing serious vascular conditions, particularly peripheral vascular disease.  This condition also appears to have some connection to carotid rete mirabile, which is extremely rare in humans.  Further research should be conducted to analyze the connection between PXE and CRM in order to better understand and treat both conditions.

scholarly journals The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders

2019 ◽  
Vol 20 (9) ◽  
pp. 2142
Author(s):  
Lukas Nollet ◽  
Matthias Van Gils ◽  
Shana Verschuere ◽  
Olivier Vanakker
Keyword(s):  
Vitamin K ◽  
Current Knowledge ◽  
Pseudoxanthoma Elasticum ◽  
Ectopic Calcification ◽  
Multifactorial Diseases ◽  
Multiple Organs ◽  
Keutel Syndrome ◽  
Ectopic Mineralization ◽  
Related Compounds

Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired diseases characterized by aberrant deposition of calcium crystals in multiple organs, such as the skin, eyes, kidneys, and blood vessels. Although the precise mechanisms leading to ectopic calcification are still incompletely known to date, various molecular targets leading to a disturbed balance between pro- and anti-mineralizing pathways have been identified in recent years. Vitamin K and its related compounds, mainly those post-translationally activated by vitamin K-dependent carboxylation, may play an important role in the pathogenesis of ectopic mineralization as has been demonstrated in studies on rare Mendelian diseases, but also on highly prevalent disorders, like vascular calcification. This narrative review compiles and summarizes the current knowledge regarding the role of vitamin K, its metabolism, and associated compounds in the pathophysiology of both monogenic ectopic mineralization disorders, like pseudoxanthoma elasticum or Keutel syndrome, as well as acquired multifactorial diseases, like chronic kidney disease. Clinical and molecular aspects of the various disorders are discussed according to the state-of-the-art, followed by a comprehensive literature review regarding the role of vitamin K in molecular pathophysiology and as a therapeutic target in both human and animal models of ectopic mineralization disorders.

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