Primary hyperoxaluria in a 27-year-old woman

Oxalosis Involving the Skin

“…1 The cutaneous findings associated with primary hyperoxaluria tend to result from vascular deposition and include livedo reticularis, acrocyanosis, ulceration, and peripheral gangrene. 2 Conversely, skin manifestations in patients who develop a secondary oxalosis attributable to renal insufficiency are rare, and when they do occur are the result of deposition extravascularly, producing calcified nodules and miliary papules. 2 We present this extraordinary case to highlight the cutaneous manifestations associated with hyperoxaluria and to provide a framework for review of the types of hyperoxaluria and the differential diagnosis.…”

“…Regardless of underlying etiology, excessive oxalate in the body precipitates as calcium oxalate initially in the kidneys and ultimately in other tissues, causing damage and subsequent disease. 2,4 Skin manifestations of hyperoxalosis are not common. Cutaneous disease associated with primary hyperoxaluria often manifests with vascular complications such as livedo, acrocyanosis, and peripheral gangrene, whereas secondary hyperoxalosis more commonly results in mild cutaneous disease owing to extravascular deposition resulting in acral or facial papules or nodules.…”

“…Secondary hyperoxaluria occurs with excessive intake of oxalate or oxalate precursors and can be seen with ethylene glycol poisoning, methoxyflurane anesthesia, excessive intake of ascorbic acid, pyridoxine deficiency, various intestinal diseases, repeated oral antibiotic use leading to elimination of oxalate-degrading Oxalobacter formigenes in the intestines, ileal resection, and chronic hemodialysis. 2,3 Because oxalate is only excreted renally, renal failure of any cause resulting in hemodialysis may result in accumulation of oxalate in body tissues though to a much lesser degree than results from primary hyperoxaluria. Regardless of underlying etiology, excessive oxalate in the body precipitates as calcium oxalate initially in the kidneys and ultimately in other tissues, causing damage and subsequent disease.…”

“…In the rare adult form, patients present with renal failure prior to development of complications related to oxalate deposition in other tissues. 2 PH-2 is caused by a deficiency of D-glycerate dehydrogenase/glyoxylate reductase subsequently leading to hyperoxaluria and excretion of L-glycerate. These patients generally present with urolithiasis; nephrolithiasis leading to renal failure can rarely occur, but again is more commonly seen in PH-1.…”

“…8 Hemodialysis cannot remove enough oxalate from the body to prevent disease progression. 2 The treatment of PH-2 is supportive with high fluid intake. 5 The primary treatment for secondary hyperoxaluria is removal of the inciting agent.…”