Oxalosis Involving the Skin

Abstract

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, birefrin-gent, 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.

Cutaneous oxalosis mimicking calcinosis cutis in a patient on peritoneal dialysis

“…Extrarenal manifestations can involve any organ system, including bone and skin. [2][3][4][5] In general, extrarenal findings are less common in hyperoxaluria secondary to renal failure than in primary hyperoxaluria. 2,6 Cutaneous manifestations of oxalosis are extremely rare and vary depending on the etiology of hyperoxalemia.…”

“…2,7 Primary hyperoxaluria, which can mimic calciphylaxis, is characterized by vascular deposition and presents with livedo reticularis, superficial eschars, nonhealing painful ulcers, acrocyanosis, peripheral gangrene, and brawny wooden fibrosis of the extremities. 3,8 Secondary hyperoxalosis is characterized by extravascular deposition, resulting in acral or facial papules or subcutaneous nodules. 3,9 In secondary oxalosis associated with hemodialysis, miliary deposits more commonly occur in the palmar aspects of the fingers, but not the toes, a finding postulated to reflect local differences in metabolism or changes in blood circulation.…”

“…3,8 Secondary hyperoxalosis is characterized by extravascular deposition, resulting in acral or facial papules or subcutaneous nodules. 3,9 In secondary oxalosis associated with hemodialysis, miliary deposits more commonly occur in the palmar aspects of the fingers, but not the toes, a finding postulated to reflect local differences in metabolism or changes in blood circulation. 10 This patient's cutaneous findings were consistent with those typically observed in secondary hyperoxalosis and did not involve the toes.…”

An Unusual Presentation of a Child with Hyperoxaluria

“…Moreover, oxalate deposition in the retinal epithelium and the macula can result in diminished visual acuity and blindness (14). Hypothyroidism, peripheral neuropathy, dental problems (e.g., tooth pain, root resorption and pulp exposure) and skin manifestations including livedo reticularis, peripheral gangrene and calcinosis cutis metastatic are other complications (15)(16)(17). Because symptoms occur relatively late and are associated with serious complications and considering the association of its prognosis with early treatment and renal deterioration, all pediatric patients who have stones are better to be screened for hyperoxaluria.…”

Disseminated gouty panniculitis: an unusual presentation of extensive cutaneous tophi

“…For pseudogout, translucent, rhomboid and rod-shaped crystals with blunt ends showing positive birefringence under polarization are characteristic findings [6]. Cutaneous oxalosis demonstrates the yellow-brown crystals or blue birefringence under polarized light in the patients with chronic kidney disease with chronic dialysis and cutaneous involvement of oxalosis as the result of vascular complication such as livedo reticularis, acrocyanosis and peripheral gangrene in the setting of hyperoxaluria [7]. We believe the presentation of our patient, both clinical and histopathological, is similar to the previously proposed term “gout nodulosis” [8].…”