Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.
| Title: | Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis. |
|---|---|
| Authors: | Faber MR; Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.; Verlaak R; Fiselier TJ; Hamel BC; Franssen MJ; Gerrits GP |
| Source: | European journal of pediatrics [Eur J Pediatr] 2004 Oct; Vol. 163 (10), pp. 612-8. |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print ISSN: 0340-6199 (Print) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE |
| Imprint Name(s): | Publication: Berlin : Springer Verlag; Original Publication: Berlin, New York, Springer-Verlag. |
| MeSH Terms: | Arthritis, Juvenile/*diagnosis ; Hajdu-Cheney Syndrome/*diagnosis; Ankle/pathology ; Hajdu-Cheney Syndrome/genetics ; Tarsal Bones/pathology ; Wrist/pathology ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Siblings |
| Abstract: | 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. |
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| Entry Date(s): | Date Created: 20040804 Date Completed: 20050418 Latest Revision: 20181113 |
| Update Code: | 20260130 |
| DOI: | 10.1007/s00431-004-1502-1 |
| PMID: | 15290262 |
| Database: | MEDLINE |
Case Reports; Journal Article