NDT Plus (2008) 1: 49–50 doi: 10.1093/ndtplus/sfm005 Advance Access publication 4 January 2008
Images in Nephrology (Section Editor: G. H. Neild)
Disseminated cutaneous papillomas in Schimke immuno-osseous dysplasia Thomas L¨ucke and Lars Pape Paediatric Nephrology, Medical School of Hannover, Germany
Keywords: kidney transplantation; papilloma; Schimke
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-
drome with progressive renal failure, defective cellular immunity and dysmorphic facial features [1,2]. Two forms of the disease have been described [3]. Patients with the severe infantile form of SIOD are thought to be dystrophic at birth, develop early renal insufficiency and suffer from neurologic complications such as transient ischaemic attacks (TIA) or cerebral infarctions. Patients with the milder type usually do not develop cerebral complications. Mutations of the chromatin remodelling protein (SMARCAL1) cause SIOD; the function of SMARCAL1 remains undefined. Genotype–phenotype correlation seems to be weak. Due to immunopathy, SIOD patients have a high risk of opportunistic infections. A few patients develop severe disseminated cutaneous papillomas. Some patients have improved with imiquimod and/or cidofovir [4]. Conflict of interest statement. None declared.
References 1. Ehrich JHH, Offner G, Schirg E et al. Association of spondyloepiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol. 1990; 4: 117–121 2. Ehrich JHH, Burchert W, Schirg E et al. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 1995; 43: 89–95 3. Boerkoel CF, O’Neill S, Andre JL et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159: 1–7 4. Elizondo L, L¨ucke T, Boerkoel C. Schimke Immunoosseous Dysplasia in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. University of Washington, Seattle, USA (Copyright); 1997–2006. http://www.genetests.org Received for publication: 12.9.07 Accepted in revised form: 27.9.07
Correspondence and offprint requests to: PD Dr. med. Lars Pape, Department of Pediatric Nephrology and Metabolic Diseases, Medical School of Hannover, Carl-Neuberg-Straße 1, D-30655 Hannover, Tel: +49-511-532-5706; Fax: +49-511-530-4830; E-mail: pape.lars@ mh-hannover.de C The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: [email protected]
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T. L¨ucke and L. Pape
Images in Nephrology (Section Editor: G. H. Neild)
Disseminated cutaneous papillomas in Schimke immuno-osseous dysplasia Thomas L¨ucke and Lars Pape Paediatric Nephrology, Medical School of Hannover, Germany
Keywords: kidney transplantation; papilloma; Schimke
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-
drome with progressive renal failure, defective cellular immunity and dysmorphic facial features [1,2]. Two forms of the disease have been described [3]. Patients with the severe infantile form of SIOD are thought to be dystrophic at birth, develop early renal insufficiency and suffer from neurologic complications such as transient ischaemic attacks (TIA) or cerebral infarctions. Patients with the milder type usually do not develop cerebral complications. Mutations of the chromatin remodelling protein (SMARCAL1) cause SIOD; the function of SMARCAL1 remains undefined. Genotype–phenotype correlation seems to be weak. Due to immunopathy, SIOD patients have a high risk of opportunistic infections. A few patients develop severe disseminated cutaneous papillomas. Some patients have improved with imiquimod and/or cidofovir [4]. Conflict of interest statement. None declared.
References 1. Ehrich JHH, Offner G, Schirg E et al. Association of spondyloepiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol. 1990; 4: 117–121 2. Ehrich JHH, Burchert W, Schirg E et al. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 1995; 43: 89–95 3. Boerkoel CF, O’Neill S, Andre JL et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159: 1–7 4. Elizondo L, L¨ucke T, Boerkoel C. Schimke Immunoosseous Dysplasia in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. University of Washington, Seattle, USA (Copyright); 1997–2006. http://www.genetests.org Received for publication: 12.9.07 Accepted in revised form: 27.9.07
Correspondence and offprint requests to: PD Dr. med. Lars Pape, Department of Pediatric Nephrology and Metabolic Diseases, Medical School of Hannover, Carl-Neuberg-Straße 1, D-30655 Hannover, Tel: +49-511-532-5706; Fax: +49-511-530-4830; E-mail: pape.lars@ mh-hannover.de C The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: [email protected]
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