[Urologic findings in pseudoxanthoma elasticum: report one case]

Area of Science:

• Dermatology
• Ophthalmology
• Nephrology
• Genetics

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic fibers.
• Manifestations include skin abnormalities, arterial calcification, and retinal angioid streaks.
• Renal parenchymal abnormalities on ultrasound have been reported in PXE patients.

Purpose of the Study:

• To report a case of Pseudoxanthoma elasticum (PXE) in a young woman with recurrent urinary tract infections.
• To highlight the diagnostic utility of renal ultrasonography in identifying potential PXE cases.

Main Methods:

• A 21-year-old woman presented with skin lesions and retinal angioid streaks.
• Skin biopsy confirmed calcified elastic fibers consistent with PXE.
• Renal ultrasonography revealed highly reflective foci in the corticomedullary junction.

Main Results:

• Skin biopsy confirmed Pseudoxanthoma elasticum (PXE).
• Renal ultrasonography identified multiple highly reflective foci in the renal parenchyma.
• The patient presented with recurrent lower urinary tract infections.

Conclusions:

• The presence of renal parenchymal abnormalities on ultrasound, alongside dermatological findings, should prompt consideration of PXE.
• While not specific, these ultrasonographic findings can aid in the differential diagnosis of PXE in young patients.
• The exact significance of PXE in recurrent urinary tract infections requires further investigation.