RESUMEN
A 36-year-old Asian man with von Hippel-Lindau syndrome was referred to the dermatology clinic in January 2005 with stiff fingers and ankles of 3 months' duration. He had undergone bilateral nephrectomy for renal squamous cell carcinoma in 2002 and had started hemodialysis. Multiple cerebellar hemangiomata were resected in 1991, 2001, and 2003, and consequently he underwent multiple magnetic resonance imaging (MRI) scans with gadolinium-based contrast agents whilst on hemodialysis. The serum creatinine level and calculated glomerular filtration rate (GFR) at the time of his first exposure to gadolinium were 584 micromol/L and 13.31 mL/min, respectively. The patient recalled his symptoms worsening dramatically immediately after he had undergone two MRI scans on a day on which he was not dialyzed. On examination, he had thickening and edema on the hands and feet with significant pain and loss of range of movement. Autoantibodies for connective tissue disorders and thrombophilia screen were negative. Histology showed a proliferation of fibroblasts and dendritic cells, thickened collagen bundles, increased elastic fibers, and mucin deposition, consistent with the diagnosis of nephrogenic fibrosing dermopathy (NFD) (Figs 1 and 2). A trial of thalidomide for several months was unhelpful. He received a live, unrelated renal transplant in August 2005 but, despite excellent renal function and early conversion to sirolimus, his symptoms continued to progress. He now has contractures of all the limbs (Figs 3 and 4) and great difficulty with the activities of daily living. He is receiving physiotherapy and being considered for extracorporeal photophoresis therapy.