Juvenile Paget's disease

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Group of rare genetic conditions with some clinical manifestations similar to Paget's disease.

  • Childhood deafness
  • Fractures
  • Skeletal deformity
  • idiopathic external lysis of adult teeth
  • occasionally focal lesions mimicing Paget's disease

Presentations

  • Autosomal recessive inactivating mutations of the TNFRSF11B gene that encodes osteoprotegerin(OPG)[1]
  • PDB2 caused by a 27-bp duplication in the gene TNFRSF11A [2]

One form is treatable with recombinant osteoprotegerin[3].

References

  1. ↑ Whyte MP. Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. Annals of the New York Academy of Sciences. 2006;1068:143-64. (Direct link – subscription may be required.)
  2. ↑ Whyte MP. Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. Annals of the New York Academy of Sciences. 2006;1068:143-64. (Direct link – subscription may be required.)
  3. ↑ Cundy T, Davidson J, Rutland MD, Stewart C, DePaoli AM. Recombinant osteoprotegerin for juvenile Paget's disease. The New England journal of medicine. 2005;353:918-23. (Direct link – subscription may be required.)
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