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, 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.
Subject(s)
Hyperoxaluria, Primary/physiopathology , Kidney Failure, Chronic/therapy , Skin Diseases/etiology , Adult , Calciphylaxis/diagnosis , Calciphylaxis/etiology , Diagnosis, Differential , Female , Fibrosis , Humans , Hyperoxaluria, Primary/diagnosis , Livedo Reticularis/diagnosis , Livedo Reticularis/etiology , Renal Dialysis , Skin/physiopathology , Skin Diseases/diagnosisABSTRACT
Mid-dermal elastolysis (MDE) is a rare acquired disorder of unknown etiology that typically presents as discrete patches of wrinkling over the trunk and arms or as perifollicular papules in the same distribution. The histopathologic finding of a bandlike loss of elastic tissue localized to the mid dermis is diagnostic. Our patient presented with atypical clinical features of urticarial papules and plaques that were histopathologically diagnostic of MDE. To our knowledge, the atypical presentation of MDE and association with hemodialysis have not been described. Furthermore, we believe matrix metalloproteinase (MMP) dysfunction to be involved in the pathogenesis of the disease.
Subject(s)
Dermis/pathology , Elastic Tissue/pathology , Renal Dialysis/adverse effects , Skin Diseases/etiology , Diagnosis, Differential , Humans , Male , Middle Aged , Skin Diseases/diagnosis , Skin Diseases/pathologySubject(s)
Neuroblastoma/diagnosis , Skin Neoplasms/diagnosis , Female , Humans , Infant , Neuroblastoma/pathology , Skin Neoplasms/pathologyABSTRACT
Nodular primary localized cutaneous amyloidosis (NPLCA) has been associated with progression to systemic amyloidosis. The reported estimate of 50% progression to systemic amyloidosis has come under scrutiny as recent studies have suggested a significantly lower rate. Still, it is essential to consider systemic amyloidosis after making the diagnosis of NPLCA and to follow up patients longitudinally for possible progression to systemic disease. We present a case of a 24-year-old woman with NPLCA with onset after traumatic injury, review the literature, and discuss the proposed rate of progression of NPLCA to systemic amyloidosis.
Subject(s)
Amyloidosis/pathology , Chin/injuries , Skin Diseases/pathology , Adult , Disease Progression , Female , HumansABSTRACT
There are numerous cutaneous findings that may be related to coexistent renal disease. An astute clinician may use careful skin examination to make early diagnosis of renal conditions in some cases, and institute appropriate therapy as soon as indicated.
