2,215 results match your criteria: "Pseudoxanthoma Elasticum"
Liquid Polycaprolactone (PCL) for Reversing PXE's Skin Laxity of Inner Thighs and Knees: A Case Report.
J Cosmet Dermatol
December 2024
Department of Biology and Nanomedicine, National and Kapodistrian University of Athens, Athens, Greece.
Background/aim: Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that affects the skin with limited treatment options. A recent technology employing particle-free polycaprolactone (PCL) has shown promising results in treating inner thighs and kness of a 27-year-old female patient. This article provides a case report along with our detailed treatment protocol based on the efficacy of PCL in reversing skin laxity that can be easily incorporated into the therapeutic approaches for patients with PXE.
View Article and Find Full Text PDFPseudoxanthoma elasticum-like papillary dermal elastolysis; A report of two cases and a literature review.
Dermatol Online J
October 2024
Division of Dermatology, Department of Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Pseudoxanthoma elasticum-like papillary dermal elastolysis is a rare, benign, acquired, gradually-developing chronic elastic tissue disorder that almost exclusively affects post-menopausal women. It is essential to recognize this disease as it mimics the inherited pseudoxanthoma clinically. The pathophysiology behind this disease is multifactorial; it includes intrinsic skin aging, ultraviolet radiation exposure, and genetic components.
View Article and Find Full Text PDFFibroelastolytic papulosis: two cases of disease spectrum variants.
Dermatol Online J
August 2024
Department of Dermatology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New Hyde Park, New York, New York, USA.
Article Synopsis
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that leads to abnormal calcium deposits in elastic tissue, causing skin changes and other health issues.
- The study focused on a 13-year-old patient with flare-ups in PXE lesions, leading to a closer examination of the inflammation involved through skin biopsies and various analyses.
- Findings showed inflammation with T-cell infiltrates in the skin, particularly with a Th1 response, suggesting an inflammatory role in PXE disease, but the exact impact on the condition needs more research.
Arterial calcification volume is associated with a higher risk of cardiovascular events in pseudoxanthoma elasticum.
Atherosclerosis
January 2025
Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:
Background And Aims: Pseudoxanthoma elasticum (PXE) patients have more arterial calcification due to lower levels of inorganic pyrophosphate, caused by mutations in the ABCC6 gene, but the relation with vascular complications is poorly understood. Because of the slow progressing nature of arterial disease in PXE patients, there is a need for a valid and reliable intermediate endpoint to be used in future clinical trials. Arterial calcification measured on computed tomography (CT) is a promising candidate, if associated with future cardiovascular events.
View Article and Find Full Text PDFCellular and biochemical approaches to define GGCX carboxylation of vitamin K-dependent proteins.
Methods Enzymol
November 2024
Department of Inflammation and Immunity, Lerner Research Institute, Cleveland Clinic Lerner College of Medicine at CWRU, Cleveland, OH, United States.
Article Synopsis
Improving precision base editing of the zebrafish genome by Rad51DBD-incorporated single-base editors.
J Genet Genomics
October 2024
Shanghai Frontiers Science Center of Genome Editing and Cell Therapy, Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai 200241, China. Electronic address:
Article Synopsis
- * The research presents a new base editor, hyA3A-BE4max, that effectively performs C-to-T substitutions in the zebrafish genome and introduces an improved version called zhyA3A-CBE5 with a significantly higher conversion rate.
- * By using zhyA3A-CBE5, the study successfully introduced two human genetic mutations in zebrafish, replicating conditions such as Diamond-Blackfan anemia and Pseudoxanthoma Elasticum, highlighting the method's utility in modeling
Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.
Front Genet
September 2024
PXE International, Inc., Damascus, MD, United States.
Article Synopsis
- - Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting skin, eyes, and blood vessels, mainly caused by mutations in the ABCC6 gene that lead to impaired calcium regulation in the body.
- - The study examined five patients from unrelated families with biallelic variants in the GGCX gene, associated with PXE-like symptoms, using next-generation sequencing for diagnosis.
- - Findings indicate that GGCX variants can also cause PXE characteristics and that patients' plasma levels of inorganic pyrophosphate (PPi) remain normal, challenging the idea that PPi levels are responsible for ectopic calcification in GGCX deficiency.
Successful Pedal Bypass in a Patient With Pseudoxanthoma Elasticum.
Vasc Endovascular Surg
October 2024
Department of Internal Medicine, Tampere University Hospital, Faculty of Medicine and Life Sciences, Tampere, Finland.
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a rare condition that leads to deep calcification in arteries, often resulting in peripheral artery disease (PAD), which poses challenges in surgical treatments.
- A case report details a successful treatment of a 57-year-old female with PXE who suffered from critical limb ischemia (CLI), using a pedal bypass with the great saphenous vein after unsuccessful angioplasty.
- The patient showed significant improvement at the one-month follow-up, with almost healed ulcerations and uncomplicated results in subsequent ultrasounds, emphasizing the importance of timely surgery and a collaborative medical approach for managing PAD in PXE patients.
Article Synopsis
- - Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that leads to issues like retinal problems, skin changes, and hardened arteries, primarily due to calcification beneath the retina, which can cause macular degeneration.
- - Researchers created and studied two specific induced pluripotent stem cell (hiPSC) lines from a PXE patient, focusing on retinal pigment epithelial (RPE) cells to compare their features with those of healthy cells.
- - Initial findings showed that PXE-specific RPE cells have increased pigmentation and poorer barrier and phagocytic functions compared to healthy controls, suggesting factors that contribute to macular degeneration in PXE patients, with further validation needed in more patients.
Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).
Arch Pediatr
September 2024
AP-HP, Paris Saclay University, INSERM; Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service d'Endocrinologie et diabète de l'enfant, Filières Santé Maladies Rares OSCAR, ERN endoRARE et BOND, Hôpital Bicêtre Paris-Saclay; U1185 physiologie et physiopathologie endocrinienne; Le Kremlin Bicêtre, France.
Article Synopsis
- - Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare disorder linked to mutations in the ENPP1 gene, leading to a variety of health issues, including GACI, OPLL, and pseudoxanthoma elasticum.
- - ARHR2 manifests with elevated serum FGF23 levels, causing phosphate loss in the kidneys, resulting in symptoms similar to other hypophosphatemic rickets, including rickets in children and osteomalacia in adults.
- - Genetic testing is crucial for diagnosing ARHR2 to ensure patients receive appropriate treatment options and access to clinical trials for new therapies.
Generalized Arterial Calcification of Infancy (GACI).
Arch Pediatr
September 2024
Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants malades University Hospital, AP-HP Centre, Paris 75015, France.
Article Synopsis
- Generalized arterial calcification of infancy (GACI) is a rare genetic disorder caused by mutations in the ENPP1 and ABCC6 genes, leading to abnormal mineralization in arteries and soft tissues, resulting in serious cardiovascular issues.
- Nearly 50% of affected infants do not survive past six months due to these complications, highlighting the severe prognosis linked to early diagnosis.
- Current treatment focuses on symptom management with options like bisphosphonates and requires ongoing support from specialized medical teams, while research aims to develop targeted therapies to correct the underlying causes of the disease.
Novel treatment for PXE: Recombinant ENPP1 enzyme therapy.
Mol Ther
November 2024
Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a genetic disorder caused by mutations in the ABCC6 gene, leading to impaired levels of a calcification inhibitor, plasma inorganic pyrophosphate (PPi).
- Recent studies show that a treatment called INZ-701 can restore PPi levels and prevent calcification in animal models, while the new enzyme therapy BL-1118 demonstrates effective results in increasing PPi levels and reducing ectopic calcification in mice.
- BL-1118's potential as a second-generation treatment suggests it may provide better efficacy than the ongoing first-generation therapies, with promising results from pharmacokinetic and pharmacodynamic studies.
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
Curr Issues Mol Biol
September 2024
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Article Synopsis
- - Germline mosaicism is a rare genetic mechanism that can complicate the diagnosis and counseling of autosomal recessive disorders, specifically highlighted in two families with PXE (Pseudoxanthoma elasticum) where a paternal whole-gene deletion was detected.
- - One family demonstrated clinical issues associated with PXE, showing retinopathy in a parent who only seemed to carry one copy of the mutated gene (heterozygous), raising challenges in understanding the inheritance patterns.
- - A review of additional cases revealed 16 more patients with gonadal mosaicism, suggesting it might be underreported, highlighting the importance of variant verification in parents and siblings of affected individuals for accurate genetic counseling and management.
Cardiovascular Manifestations of Pseudoxanthoma Elasticum: Pathophysiology, Management, and Research.
Cardiol Rev
September 2024
Departments of Cardiology and Medicine, Westchester Medical Center and New York Medical College, Valhalla, NY.
Article Synopsis
- * It arises from a combination of genetic and environmental factors, with a significant contribution from mutations in the ABCC6 gene, which disrupts the function of the MRP6 protein essential for cell transport.
- * Clinical symptoms can range from minor skin issues to serious cardiovascular problems, highlighting the importance of early diagnosis and appropriate treatment strategies.
Pseudoxanthoma elasticum: An unique entity in the coronary surgery.
Perfusion
September 2024
Cardiothoracic surgery department, University Hospital Southampton, Southampton, UK.
Article Synopsis
- - Pseudoxanthoma elasticum (PXE) is a rare connective tissue disease that impacts the formation of elastic fibers, which can complicate surgical procedures like revascularization in affected patients.
- - A notable case involved a 43-year-old man with PXE and coronary artery disease who had successful off-pump coronary artery bypass graft (CABG) surgery using the left internal mammary artery (LIMA) to the left anterior descending (LAD) artery.
- - This case represents the first occurrence of off-pump surgery for PXE in the UK and the second recorded in medical literature, suggesting a need for further research to establish standardized surgical practices for PXE patients.
Treatment of skin lesions related to pseudoxanthoma elasticum in plastic surgery.
Ann Chir Plast Esthet
September 2024
Plastic surgery Unit, National Reference Center for PXE (MAGEC Nord), Department of Dermatology, 4, rue Larrey, 49933 Angers, France. Electronic address:
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that leads to skin changes, primarily yellow papules and excess skin around areas like the neck, causing notable aesthetic and psychological effects, especially in women.* -
- A study conducted at a University-Hospital from 2007 to 2022 evaluated treatment options for patients with PXE, focusing on surgical procedures to reduce the size of skin lesions rather than complete removal.* -
- Out of 250 patients, 30 underwent surgery with methods like facelifts and skin tightening; results were mostly satisfactory with no complications, highlighting the potential for effective surgical intervention in managing PXE-related skin issues.*
Comprehensive review of angioid streaks.
Indian J Ophthalmol
September 2024
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India.
Article Synopsis
- - Angioid streaks are irregular breaks in Bruch's membrane, appearing as pigmented lines that can indicate underlying systemic diseases like pseudoxanthoma elasticum, Paget's disease, and hemoglobinopathies in about 50% of cases, though some may be idiopathic.
- - Patients often remain asymptomatic until complications arise, such as choroidal neovascular membrane or subretinal hemorrhage, which can occur even from minor trauma due to the membrane's fragility.
- - Diagnosis involves clinical exams and imaging techniques like fundus autofluorescence and optical coherence tomography, while treatment typically focuses on managing complications, often through intravitreal injections of antivascular endothelial growth factor.
Cyclical Etidronate Reduces the Progression of Arterial Calcifications in Patients with Pseudoxanthoma Elasticum: A 6-Year Prospective Observational Study.
J Clin Med
August 2024
Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, 3508 GA Utrecht, The Netherlands.
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that leads to calcification in tissues like arteries due to mutations that lower levels of a natural calcification inhibitor called pyrophosphate.
- A study showed that using cyclical etidronate, a pyrophosphate analog, significantly decreased arterial calcification over a year when compared to a placebo.
- Following 73 patients for an average of 3.6 years without etidronate and 2.8 years with it, results indicated a significant reduction in the progression of calcification rates with etidronate treatment, with no serious side effects reported.
High prevalence of breast arterial calcification in pseudoxanthoma elasticum (PXE) - A nationwide study in the Netherlands.
Vasc Med
December 2024
Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Progression Rate of Macular Retinal Pigment Epithelium Atrophy in Geographic Atrophy and Selected Inherited Retinal Dystrophies. A Systematic Review and Meta-Analysis.
Am J Ophthalmol
January 2025
Oftalmologia Mèdica i Quirúrgica (OMIQ) Research (M.B.), Barcelona, Spain. Electronic address:
Article Synopsis
- The study aims to compare the progression rates of retinal pigment epithelium (RPE) atrophy in various degenerative and inherited retinal diseases, particularly focusing on geographic atrophy (GA) and Stargardt disease (STGD1).
- A systematic review and meta-analysis were conducted, analyzing data from multiple databases to find studies on treatment-naïve eyes with RPE atrophy and a minimum follow-up of 12 months, ultimately including 85 studies for analysis.
- Results showed that GA had a higher mean RPE atrophy growth rate (1.65 mm/y using FAF) compared to STGD1 (1.0 mm/y using FAF), indicating faster progression in GA overall.
The 2023 PXE Calcification Meeting in Budapest: A Focus on Clinical Trials for this Disease.
J Invest Dermatol
November 2024
Institute of Molecular Life Sciences, HUN-REN Hungarian Research Network, Budapest, Hungary.
Bilateral angioid streaks in a young patient with pseudoxanthoma elasticum.
Oman J Ophthalmol
June 2024
Department of Sense Organs, Ophthalmology Unit, Sapienza University of Rome, Policlinico Umberto I University Hospital, Rome, Italy.
Prevalence, Features, and Outcomes of Type 1 Neovascularization in Eyes with Angioid Streaks.
Ophthalmol Retina
August 2024
School of Medicine, Vita-Salute San Raffaele University, Milan, Italy; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Article Synopsis
- The study investigated neovascularization (NV) in patients with angioid streaks (AS) due to pseudoxanthoma elasticum (PXE), aiming to explore its characteristics and outcomes while also proposing a classification system based on various imaging techniques.
- It analyzed data from 85 patients, noting that 76% had type 1 NV, primarily around the optic disc, with many cases remaining nonexudative over five years, yet some progressed to more severe forms, increasing the risk of vision loss.
- The research concluded that type 1 NV is common and can lead to significant visual impairment, while a newly developed classification system for AS ranges from non-NV stages to those with advanced NV
Article Synopsis
- Pseudoxanthoma elasticum is a genetic disease that causes abnormal mineralization in the skin, eyes, and blood vessels, leading to various symptoms.
- The condition is characterized by small yellow or skin-colored bumps, primarily on the neck and in areas like the armpits and around the belly button, along with loose and wrinkled skin.
- Diagnosing this condition can be challenging, especially in individuals with darker skin tones, and dermatologists often refer patients to specialists for further evaluation of potential complications.