FATAL CUTANEOUS NECROSIS MIMICKING CALCIPHYLAXIS IN A PATIENT WITH TYPE-1 PRIMARY HYPEROXALURIA

Background: Cutaneous necrosis of the proximal lower extremities in a patient with end-stage renal disease is the classic presentation of ca lciphylaxis, an untreatable, rare, generally fatal necrotizing cutaneo us syndrome. Type 1 primary hyperoxaluria (PH-1) usually presents in c hildhood with recurrent urolithiasis. Since enzymatic studies to confi rm the metabolic defect are now available, some cases of idiopathic re nal failure in adulthood have been shown to be caused by PH-1. These p atients may develop vascular oxalate deposits resulting in livedo reti cularis and distal acral vascular insufficiency. Observations: We desc ribe a patient who presented in end-stage renal failure with proximal lower extremity cutaneous necrosis suggestive of calciphylaxis. A cuta neous biopsy specimen revealed oxalate crystals within blood vessels, and a diagnosis of PH-1 was confirmed enzymatically. Conclusions: This patient illustrates that PH-1 may present in adulthood, and, in the s etting of cutaneous necrosis associated with end-stage renal disease, it may be confused with calciphylaxis. The importance of making a diag nosis of PH-1 is the potential ability to achieve longterm survival by reversing the underlying metabolic defect with hepatic transplantatio n.