Skip to main content

Advertisement

SpringerLink
Log in

Paget's disease of bone or osteopetrosis?

  • Brief Report
  • Published:
Clinical Rheumatology Aims and scope Submit manuscript

Abstract

We report a previously undescribed case of diffuse, scan-negative, and low active form of bone disease carrying clinical, x-ray, and biochemistry signs of Paget's disease of bone, which is analyzed in comparison with different forms of osteopetrosis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

References

  1. Resnick D (1988) Paget's disease of bone: current status and a look back to 1943 and earlier. AJR 150:249

    PubMed  CAS  Google Scholar 

  2. Altman RD (2001) Paget's disease of bone. In: Koopman WJ (ed) Arthritis and allied conditions, 14th edn. Lippincott Williams Wilkins, Philadelphia, pp 2514–2527

    Google Scholar 

  3. Alatalo SL, Ivaska KK, Waguespack SG, Econs MJ, Vaananen HK, Halleen JM (2004) Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). Clin Chem 50:883–890

    Article  PubMed  CAS  Google Scholar 

  4. Jeerathanyasakun Y, Sukswai P (2003) Bilateral asynchronous humeral shaft fractures in a patient with autosomal dominant osteopetrosis type II (Albers-Schonberg disease). J Med Assoc Thai 86(Suppl 3):S667–S672

    PubMed  Google Scholar 

  5. Letizia C, Taranta A, Migliaccio S, Caliumi C, Diacinti D, Delfini E, D'Erasmo E, Iacobini M, Roggini M, Albagha OM, Ralston SH, Teti A (2004) Type II benign osteopetrosis (Albers-Schonberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. Calcif Tissue Int 74:42–46

    Article  PubMed  CAS  Google Scholar 

  6. Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W (2001) Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10:2861–2867

    Article  PubMed  CAS  Google Scholar 

  7. Siris ES (1998) Extensive personal experience: Paget's disease of bone. J Clin Endocrinol Metab 80:335–338

    Article  Google Scholar 

  8. Meunier PJ, Salson C, Mathieu L, Chapuy MC, Delmas P, Alexandre C, Charhon S (1987) Skeletal distribution and biochemical parameters of Paget's disease. Clin Orthop 217:37–44

    PubMed  Google Scholar 

  9. Vellenga CJ, Pauwels EK, Bijvoet OL, Frijlink WB, Mulder JD, Hermans J (1984) Untreated Paget disease of bone studied by scintigraphy. Radiology 153:799–805

    PubMed  CAS  Google Scholar 

  10. Dumont M, Lamoureux J, Lamoureux F, Danais S, Soucy JP, Taillefer R (1983) Osteopetrosis appearance on bone scan. Clin Nucl Med 8:446

    Article  PubMed  CAS  Google Scholar 

  11. Adams BK (1989) Scintigraphy in a patient with complicated osteopetrosis. Clin Nucl Med 14:323–326

    Article  PubMed  CAS  Google Scholar 

  12. Vellenga CJ, Bijvoet OL, Pauwels EK (1988) Bone scintigraphy and radiology in Paget's disease of bone: a review. Am J Physiol Imag 3:154–168

    CAS  Google Scholar 

  13. Smith NHH (1978) Monostotic Paget's disease of the mandible presenting with progressive resorption of the teeth. Oral Surg 46:246

    Article  PubMed  CAS  Google Scholar 

  14. Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum Mutat 24(3):272 (September)

    Article  PubMed  CAS  Google Scholar 

  15. Frattini A, Pangrazio A, Susani L et al (2003) Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 18:1740–1747

    Article  PubMed  CAS  Google Scholar 

  16. Tolar J, Teitelbaum SL, Orchard PJ (2004) Osteopetrosis. N Engl J Med 351:2839–2849

    Article  PubMed  Google Scholar 

  17. Benichou O, Cleiren E, Gram J, Bollerslev J, DeVernejoul M, Van Hul W (2001) Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3. Am J Hum Genet 69:647–654

    Article  PubMed  CAS  Google Scholar 

  18. Laurin N, Brown JP, Lemainque A, Duchesne A, Huot D, Lacourciere Y, Drapeau G, Verreault J, Raymond V, Morissette J (2001) Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. Am J Hum Genet 69:528–543

    Article  PubMed  CAS  Google Scholar 

  19. Good DA, Busfield F, Fletcher BH, Duffy DL, Kesting JB, Andersen J, Shaw JT (2002) Linkage of Paget disease of bone to a novel region on human chromosome 18q23. Am J Hum Genet 70:517–525

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The B. Shine Department of Rheumatology, Bone Metabolism Unit, Rambam Medical Center and B. Rappaport Faculty of Medicine, Israel-Technion Institute of Technology, Haifa, Israel

    Alexander Rozin

  2. Department of Nuclear Medicine, Bone Metabolism Unit, Rambam Medical Center and B. Rappaport Faculty of Medicine, Israel-Technion Institute of Technology, Haifa, Israel

    Rachel Bar-Shalom

  3. Department of Endocrinology, Bone Metabolism UnitRambam Medical Center and B. Rappaport Faculty of Medicine, Israel-Technion Institute of Technology, Haifa, Israel

    Sofia Ish-Shalom

Authors
  1. Alexander Rozin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rachel Bar-Shalom
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sofia Ish-Shalom
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Alexander Rozin.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rozin, A., Bar-Shalom, R. & Ish-Shalom, S. Paget's disease of bone or osteopetrosis?. Clin Rheumatol 25, 544–547 (2006). https://doi.org/10.1007/s10067-005-0035-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10067-005-0035-y

Keywords

Search

Navigation