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Pseudoxanthoma elasticum and nephrolithiasis: a rare association
Arfan-Ul- Bari1, Inam-Ul- Haq, Maliha Rani
1Department of Dermatology, CMH, Muzaffarabad, AJK, Pakistan.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|December 12, 2007
Summary
Pseudoxanthoma elasticum (PXE) is a genetic disorder affecting connective tissue. This case highlights a young patient presenting with kidney issues, revealing extensive PXE manifestations and emphasizing the need for comprehensive evaluation.
Area of Science:
- Medical Genetics
- Dermatology
- Nephrology
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting connective tissue.
- It is characterized by calcification and fragmentation of elastic fibers, impacting skin, eyes, and the cardiovascular system.
Purpose of the Study:
- To report a case of Pseudoxanthoma elasticum presenting with acute kidney injury.
- To emphasize the importance of thorough evaluation for systemic complications in PXE patients.
Main Methods:
- Case report of a young male patient presenting with azotemia and obstructive uropathy.
- Clinical evaluation for skin and eye manifestations of PXE.
- Assessment for potential systemic complications.
Main Results:
- The patient successfully recovered from acute kidney injury.
- Full-blown skin and eye manifestations of PXE were identified.
- Further evaluation was initiated to assess systemic involvement.
Conclusions:
- PXE can present with varied and severe systemic complications, including renal issues.
- Early diagnosis and comprehensive assessment are crucial for managing PXE and its associated risks.
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