Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.
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.


CONCLUSIONS
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.
Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
Marianne R
MR
Faber
René
R
Verlaak
Theo J W
TJ
Fiselier
Ben C J
BC
Hamel
Marcel J A M
MJ
Franssen
G Peter J M
GP
Gerrits
D000842:Ankle / Q000473:pathology; D001171:Arthritis, Juvenile / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D035781:Siblings; D013639:Tarsal Bones / Q000473:pathology; D014953:Wrist / Q000473:pathology