Multicenter carpotarsal osteolysis

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Classification according to ICD-10
M89.5 Osteolysis
ICD-10 online (WHO version 2019)

The Multicenter karpotarsale osteolysis is a very rare congenital disease with the main features of a several bones , usually at the hand and foot root, occurring osteolysis . Chronic renal failure is often associated.

Synonyms are: osteolysis, idiopathic multicenter, with or without nephropathy

The genetic cause was first described in 2012 by the Australian doctors Andreas Zankl and colleagues.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in MAFB - gene on chromosome 20 locus q12 based.

Changes in this gene can also be found in hereditary idiopathic osteolysis type IV Thieffry-Shurtleff , possibly the same clinical picture.

Clinical manifestations

Clinical criteria are:

  • Onset of illness in childhood
  • Progressive loss of bone substance, mostly on the wrist and tarsus
  • Restriction of movement
  • often chronic renal failure

In addition, there may be intellectual disabilities and facial problems.

literature

  • C. Klein, J. Bellity, G. Finidori, C. Glorion, S. Pannier: Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients. In: Skeletal radiology. Volume 47, Number 7, July 2018, pp. 1015-1019, doi: 10.1007 / s00256-018-2874-z , PMID 29396697 .

Individual evidence

  1. ↑ a b c Multicenter carpotarsal osteolysis with or without nephropathy. In: Orphanet (Rare Disease Database).
  2. ↑ A. Zankl, EL Duncan, PJ Leo, GR Clark, EA Glazov, MC Addor, T. Herlin, CA Kim, BP Leheup, J. McGill, S. McTaggart, S. Mittas, AL Mitchell, GR Mortier, SP Robertson , M. Schroeder, P. Terhal, MA Brown: Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. In: American Journal of Human Genetics . Volume 90, number 3, March 2012, pp. 494-501, doi: 10.1016 / j.ajhg.2012.01.003 , PMID 22387013 , PMC 3309183 (free full text).
  3. ↑ Multicentric carpotarsal osteolysis syndrome.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ S. Mumm, M. Huskey, S. Duan, D. Wenkert, KL Madson, GS Gottesman, AR Nenninger, RM Laxer, WH McAlister, MP Whyte: Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. In: American journal of medical genetics. Part A. Volume 164A, number 9, September 2014, pp. 2287–2293, doi: 10.1002 / ajmg.a.36641 , PMID 24989131 , PMC 4505615 (free full text).

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