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[Pseudoxanthoma elasticum: A disorder with different manifestations]
T R Tromp1, G Kranenburg, J Ossewaarde-van Norel
1Universitair Medisch Centrum Utrecht, Utrecht.
Nederlands Tijdschrift Voor Geneeskunde
|August 11, 2016
Summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting skin, eyes, and blood vessels. This report highlights the diverse clinical presentations of PXE in two patients, emphasizing varied initial symptoms.
Area of Science:
- Medical Genetics
- Dermatology
- Ophthalmology
- Vascular Medicine
Background:
- Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive genetic disorder.
- Characterized by progressive calcification of elastic fibers throughout the body.
Observation:
- Case A: An 11-year-old girl presented with pseudoxanthomas, later developing arterial calcifications and intermittent claudication, managed with exercise.
- Case B: A 55-year-old man presented with metamorphopsia due to retinal changes and subretinal hemorrhage, treated with anti-VEGF injections to preserve vision.
Findings:
- PXE exhibits diverse dermatological, ocular, and vascular manifestations.
- Initial clinical presentation and symptoms of PXE can vary significantly between individuals.
- Early diagnosis and tailored management are crucial for mitigating complications.
Implications:
- These cases underscore the importance of recognizing the varied clinical spectrum of PXE.
- Prompt diagnosis and multidisciplinary management can improve patient outcomes.
- Further research into PXE pathogenesis and treatment is warranted.
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