Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vessel walls, and Bruch's membrane. Clinically, patients exhibit characteristic lesions of the skin (soft, ivory-colored papules in a reticular pattern that predominantly affect the neck), the posterior segment of the eye (peau d'orange, angioid streaks, choroidal neovascularizations), and the cardiovascular system (peripheral arterial occlusive disease, coronary occlusion, gastrointestinal bleeding). There is no causal therapy. Recent studies suggest that PXE is inherited almost exclusively as an autosomal recessive trait. Its prevalence has been estimated to be 1:25,000-100,000. The ABCC6 gene on chromosome 16p13.1 is associated with the disease. Mutations within the ABCC6 gene cause reduced or absent transmembraneous transport that leads to accumulation of substrate and calcification of elastic fibers. Although based on clinical features the diagnosis appears readily possible, variability in phenotypic expressions and the low prevalence may be responsible that the disease is underdiagnosed. This review covers current knowledge of PXE and presents therapeutic approaches.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00347-006-1353-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Differential Diagnosis of Age-Related Macular Degeneration.
Klin Monbl Augenheilkd
January 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
A diagnosis of age-related macular degeneration (AMD) may have a significant impact on a patient's life. Therefore, it is important to consider differential diagnoses, as these can differ considerably from AMD regarding prognosis, inheritance, monitoring and therapy. Differential diagnoses include other macular diseases with drusen, drusen-like changes, monogenic retinal dystrophies, as well as a wide range of other, often rare macular diseases.
View Article and Find Full Text PDFArticle 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.
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.
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.
Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.
Skinmed
August 2024
Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon;
Article Synopsis
- * The condition usually appears during the teenage years and is primarily caused by mutations in specific genes, with most cases being sporadic or recessive.
- * Recent research has identified several disorders that display PXE-like symptoms or microscopic features, prompting a discussion on the potential mechanisms that could cause this overlap.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!