Multicentric carpotarsal osteolysis in a rheumatologist’s practice


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Abstract

Multicentric carpotarsal osteolysis (MCTO) syndrome is a rare skeletal dysplasia associated with missense mutation in the MAFB gene, usually manifesting in young childhood, and showing variative phenotypic signs and course. The clinical manifestations of the syndrome include aggressive osteolysis predominantly of carpal and tarsal bones, progressive nephropathy, and mild craniofacial anomalies. The similarity between the initial clinical manifestations of MCTO and the symptoms of childhood inflammatory joint diseases makes a diagnosis very difficult, in the early stages of the disease in particular, and frequently leads to the ungrounded use of long-term immunosuppressive therapy. The paper describes a familial case of MCTO without affecting the kidneys in the mother and daughter.

References

  1. Kaissi Al., Scholl-Buergi S., Biedermann R. et al. The diagnosis and management of patients with idiopathic osteolysis. Pediatr Rheumatol Online J 2011; 9: 31.
  2. Warman ML., Cormier-Daire V., Hall C. et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 2011; 155: 943—968.
  3. Zankl A., Duncan E.L., Leo P.J. et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet 2012; 90 (3): 494—501.
  4. Dworschak G.C., Draaken M., Hilger A. et al. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsalosteolysis syndrome. Int J Mol Med 2013; 32 (1): 174—178.
  5. Mehawej C., Courcet J.B., Baujat G. et al. The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. Am J Med Genet A 2013; 161 (12): 3023—3029.
  6. Mumm S., Huskey M., Duan S. et al. Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. Am J Med Genet A 2014; 164 (9): 2287—2293.
  7. Cansu D., Celik M., Kaşifoğlu T. et al. Osteolysis syndrome mimicking juvenile idiopathic arthritis. Joint Bone Spine 2009; 76 (1): 89—91.
  8. Жолобова Е.С., Бобылева В.Н., Михалева Г.В. Спонтанное рассасывание метакарпальных и метатарзальных костей в практике детского ревматолога. Вопр совр педиатр 2008; 3: 113—116.
  9. Faber M.,. Verlaak R., Fiselier T.J.W. et al. Inherited multicentric osteolysis with carpal tarsal localisation mimicking juvenile idiopathic arthritis. Eur J Pediatr 2004; 163: 612—618.
  10. McDonald K., Toms A.P., Armon K. et al. Carpal-tarsal osteolysis with elbow involvement. Skeletal Radiol 2007; 36: 1097—1101.
  11. Connor A., Highton J., Hung N.A. et al. Multicentric carpal-tarsal osteloysis with nephropathy treated successfully with cyclosporine A: a case report and literature review. Am J Kidney Dis 2007; 50: 649—654.
  12. Bakker S.J., Vos G.D., Verschure P.D. et al. Abnormal glomerular basement membrane in idiopathic multicentric osteolysis. Pediatr Nephrol 1996; 10: 200—202.
  13. Ismail F., Muller C., Goller R. et al. Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement. Skeletal Radiol 2012; 41: 619—620.
  14. Bennett W.M., Houghton D.C., Beals R.C. Nephropathy of idiopathic multicentric osteolysis. Nephron 1980; 25: 134—138.
  15. Tyler T., Rosenbaum H.D. Idiopathic multicentric osteolysis. Am J Roentgenol 1976; 126: 23—31.
  16. Carmichael K.D., Launikitis R.A., Kalia A. The orthopaedic and renal manifestations of idiopathic carpal tarsal osteolysis. J Pediatr Orthop 2007; 16: 451—454.
  17. Lee S.-J., Whitewood C., Murray K.J. Inherited multicentric osteolysis: case report of three siblings treated with bisphosphonate. Pediatric Rheumatol 2010; 8: 12.
  18. Hwang S., Shin D.Y., Moon S.H. et al. Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. Yonsei Med J 2011; 52 (3): 543—546.

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