Disseminated cutaneous papillomas in Schimke immuno-osseous dysplasia

A 17-year-old girl (height: 16 cm below the third percentile; weight 10 kg below the third percentile) was diagnosed with familial steroid-resistant nephrotic syndrome at the age of 6 years. A renal biopsy was performed at this time, which showed that all 16 glomeruli were normal by light microscopy. Neither steroid therapy, cyclosporine A nor ACE inhibitor therapy led to remission. The patient reached terminal renal failure at 10 years of age and chronic peritoneal dialysis therapy was initiated, which was complicated by multiple infections. In the year 2000, aged 11, she received a maternal kidney transplant. Prednisolone, cyclosporine A and basiliximab were used initially for immunosuppression. Transplant function has remained stable (s-creatinine 112 μmol/l, July 2007). The patient also suffers from progressive hip dysplasia leading to severe pain that requires continual treatment with buprenorphine. In 2003, she developed severe disseminated cutaneous papillomas, mainly on her face and on both hands (Figure 1), which led to severe personal and job-related problems, followed by a period of depression. The papillomas were refractory to different antiviral drugs, salicylic acid, surgical interventions and infrared light therapy. Furthermore, she did not improve from reducing the immunosuppressant therapy to low-dose-sirolimus monotherapy. Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive multisystem disorder with the main clinical features of disproportional growth failure due to spondyloepiphyseal dysplasia, nephrotic syn-