UNLABELLED: Five patients with multicentric carpal-tarsal osteolysis are presented: a mother and her three children with an autosomal dominant mode of inheritance and one of the children with nephropathy, the fifth a sporadic case also with renal involvement. The main findings common to these five patients are symptoms and signs simulating arthritis of the wrists and/or ankles starting at a young age and mimicking juvenile idiopathic arthritis. Early signs of osteolysis and shortening of the carpus or tarsus are radiological characteristic. The disease may be associated with a peculiar face, but most importantly with nephropathy. The pathogenesis is still unknown. CONCLUSION: Recognition of this disease and differentiation from juvenile idiopathic arthritis is important to avoid unnecessary investigations and treatment. Follow-up of renal function is indicated.
UNLABELLED: Five patients with multicentric carpal-tarsal osteolysis are presented: a mother and her three children with an autosomal dominant mode of inheritance and one of the children with nephropathy, the fifth a sporadic case also with renal involvement. The main findings common to these five patients are symptoms and signs simulating arthritis of the wrists and/or ankles starting at a young age and mimicking juvenile idiopathic arthritis. Early signs of osteolysis and shortening of the carpus or tarsus are radiological characteristic. The disease may be associated with a peculiar face, but most importantly with nephropathy. The pathogenesis is still unknown. CONCLUSION: Recognition of this disease and differentiation from juvenile idiopathic arthritis is important to avoid unnecessary investigations and treatment. Follow-up of renal function is indicated.
Authors: Andreas Zankl; Emma L Duncan; Paul J Leo; Graeme R Clark; Evgeny A Glazov; Marie-Claude Addor; Troels Herlin; Chong Ae Kim; Bruno P Leheup; Jim McGill; Steven McTaggart; Stephan Mittas; Anna L Mitchell; Geert R Mortier; Stephen P Robertson; Marie Schroeder; Paulien Terhal; Matthew A Brown Journal: Am J Hum Genet Date: 2012-03-01 Impact factor: 11.025
Authors: Kelin Chen; Malú Zamariolli; Maria de Fátima de Faria Soares; Vera Ayres Meloni; Maria Isabel Melaragno Journal: Mol Syndromol Date: 2021-08-27
Authors: Peong Gang Park; Kee Hyuck Kim; Hye Sun Hyun; Chan Hee Lee; Jin-Su Park; Jeong Hae Kie; Young Hun Choi; Kyung Chul Moon; Hae Il Cheong Journal: BMC Med Genet Date: 2018-09-12 Impact factor: 2.103