Cutaneous Oxalosis Due to Primary Hyperoxaluria

Area of Science:

• Nephrology
• Dermatology
• Medical Genetics

Background:

• Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder.
• It leads to excessive oxalate production and deposition in organs.
• End-stage renal disease (ESRD) is a common complication.

Observation:

• A 19-year-old female with ESRD, liver failure, and recurrent urolithiasis presented with a painful purpuric foot lesion.
• Biopsy confirmed oxalate crystals occluding dermal vessels, causing ischemia.
• Oxalate crystals were found in vessel walls and subcutis.

Findings:

• Genetic testing confirmed PH1.
• The patient received treatment including sodium thiosulfate, anticoagulation, and wound care.
• Cutaneous oxalosis was limited to the feet at follow-up.

Implications:

• Cutaneous oxalosis should be considered in young patients with purpuric lesions, recurrent urolithiasis, and early renal failure.
• This case highlights the systemic manifestations of PH1.
• Combined liver and kidney transplant evaluation was initiated.