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Primary hyperoxaluria: report of a patient with livedo reticularis and digital infarcts
Vincent Marconi1, Mona Z Mofid, Caroline McCall
1Department of Dermatology, Johns Hopkins Hospital, Baltimore, MD, USA.
Insights
Primary hyperoxaluria, a rare genetic disorder, causes excess oxalate excretion. This case highlights its potential to manifest as livedo reticularis and gangrene before kidney failure, emphasizing early diagnosis for this oxalosis condition.
Area of Science:
- Nephrology
- Genetics
- Metabolic Disorders
Background:
- Primary hyperoxaluria comprises three rare genetic disorders of glyoxylate metabolism.
- Characterized by excessive urinary oxalate excretion, leading to systemic oxalosis.
- Patients often develop recurrent kidney stones and chronic kidney disease.
Observation:
- A patient presented with acute renal failure.
- Subsequently developed livedo reticularis and peripheral gangrene.
- Diagnosis of primary hyperoxaluria was established after these symptoms.
Findings:
- Skin biopsy revealed characteristic oxalate crystals in subcutaneous vessels.
- Crystals were elongate, diamond-shaped, and radially oriented.
- These oxalate deposits were strongly birefringent under polarized light.
Implications:
- This case expands the recognized clinical spectrum of primary hyperoxaluria.
- Highlights the importance of considering primary hyperoxaluria in patients with unexplained vascular events.
- Early diagnosis through skin biopsy can aid in managing oxalosis and preventing further complications.
Abstract:
Primary hyperoxaluria encompasses 3 rare genetic disorders of glyoxylate metabolism characterized by excessive urinary excretion of oxalic acid, resulting in oxalosis. Patients typically have recurrent calcium oxalate nephrolithiasis and nephrocalcinosis, leading to chronic renal failure and death from uremia. Oxalate can deposit in extrarenal sites such as the heart, walls of arteries and veins, bone, and skin. We report a patient who presented with acute renal failure and later experienced livedo reticularis and peripheral gangrene before the diagnosis of primary hyperoxaluria was established. A skin biopsy specimen demonstrated numerous characteristic elongate to diamond-shaped, radially oriented, pale yellow translucent oxalate crystals within the vessels, and vessel walls of the subcutaneous fat that were strongly birefringent under polarized light.