BACKGROUND: The primary hyperoxalurias are a group of rare autosomal recessive metabolic disorders associated with abnormal overproduction of serum oxalate and subsequent deposition in tissue. Most patients present at an early age with recurrent urolithiasis and renal failure. Vascular deposition of oxalate-producing skin manifestations, such as livedo reticularis, acrocyanosis, peripheral gangrene, and ulcerations, is typical of the primary hyperoxalurias. OBSERVATIONS: We present the case of a 38-year-old woman with end-stage renal disease receiving hemodialysis with progressive skin changes, including livedo reticularis, superficial eschars, and brawny, woody fibrosis of her extremities, who was clinically suspected to have calciphylaxis or nephrogenic systemic fibrosis. Cutaneous biopsy specimens revealed rectangular, birefringent, yellowish-brown, polarizable crystalline material suggestive of oxalate within the dermis, subcutis, and medium-size vessels along with areas of focal epidermal and superficial dermal necrosis. Her subsequent medical history was obtained and was suggestive of a diagnosis of primary hyperoxaluria. CONCLUSIONS: This case highlights the variability of clinical presentations in primary hyperoxaluria and that the disease can be diagnosed in adulthood. In addition, this case demonstrates that hyperoxaluria should be included in the differential diagnosis of calciphylaxis and nephrogenic systemic fibrosis.
BACKGROUND: The primary hyperoxalurias are a group of rare autosomal recessive metabolic disorders associated with abnormal overproduction of serum oxalate and subsequent deposition in tissue. Most patients present at an early age with recurrent urolithiasis and renal failure. Vascular deposition of oxalate-producing skin manifestations, such as livedo reticularis, acrocyanosis, peripheral gangrene, and ulcerations, is typical of the primary hyperoxalurias. OBSERVATIONS: We present the case of a 38-year-old woman with end-stage renal disease receiving hemodialysis with progressive skin changes, including livedo reticularis, superficial eschars, and brawny, woody fibrosis of her extremities, who was clinically suspected to have calciphylaxis or nephrogenic systemic fibrosis. Cutaneous biopsy specimens revealed rectangular, birefringent, yellowish-brown, polarizable crystalline material suggestive of oxalate within the dermis, subcutis, and medium-size vessels along with areas of focal epidermal and superficial dermal necrosis. Her subsequent medical history was obtained and was suggestive of a diagnosis of primary hyperoxaluria. CONCLUSIONS: This case highlights the variability of clinical presentations in primary hyperoxaluria and that the disease can be diagnosed in adulthood. In addition, this case demonstrates that hyperoxaluria should be included in the differential diagnosis of calciphylaxis and nephrogenic systemic fibrosis.
Authors: Juliana Martins Leal; Gabriela Higino de Souza; Paula Figueiredo de Marsillac; Alexandre Carlos Gripp Journal: An Bras Dermatol Date: 2021-09-17 Impact factor: 1.896