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Updated: Sep 8, 2025
06:23
Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
Published on: January 17, 2025
867
Inborn Errors of Metabolism: Pseudoxanthoma elasticum
Justin Cheong1, Stephen H Tsang2, Tarun Sharma3
1Vagelos College of Physicians and Surgeons, New York, NY, USA.
Advances in Experimental Medicine and Biology
|July 30, 2025
Summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting multiple body systems. This condition impacts the skin, gastrointestinal tract, heart, and eyes.
Area of Science:
- Genetics
- Dermatology
- Ophthalmology
- Cardiology
- Gastroenterology
Background:
- Pseudoxanthoma elasticum (PXE) is an inherited condition.
- It affects connective tissues throughout the body.
Purpose of the Study:
- To summarize the key features of PXE.
- To highlight its multisystemic nature.
Main Methods:
- Literature review.
- Synthesis of existing research.
Main Results:
- PXE is characterized by calcification and fragmentation of elastic fibers.
- Manifestations include skin lesions (angioid streaks), gastrointestinal bleeding, and cardiovascular issues.
Conclusions:
- PXE requires a multidisciplinary approach for management.
- Early diagnosis and monitoring are crucial for patients.
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