Skip to main content

Advertisement

Log in

Familial early onset sarcoidosis with bone cysts and erosions

  • Case Report
  • Published:
Skeletal Radiology Aims and scope Submit manuscript

Abstract

Early onset sarcoidosis is a granulomatous disease which is characterized by synovitis, polyarthritis, skin and eye involvement. We report the skeletal features of one patient with a family history and clinical symptoms suggestive of early onset sarcoidosis (EOS) which was confirmed by skin biopsy. Radiographs reveal postarthritic deformities of the MCP joints, contractures, a coarsened trabecular pattern at the PIP joints and small bone cysts resembling osteitis cystoides multiplex. Similar lesions were described in radiographs of the older sister and an uncle of our patient. This is the first report demonstrating bone cysts and erosions which could be a diagnostic feature in this rare disease and may help to differentiate other rheumatoid disorders.

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

Access this article

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

Instant access to the full article PDF.

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985;107: 689–693.

    Article  PubMed  CAS  Google Scholar 

  2. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29: 19–20.

    Article  PubMed  CAS  Google Scholar 

  3. Rose CD, Doyle TM, McIlvain-Simpson G, et al. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 2005;32: 373–375.

    PubMed  CAS  Google Scholar 

  4. Kanazawa N, Okafuji I, Kambe N, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation:common genetic etiology with Blau syndrome. Blood 2005;105: 1195–1197.

    Article  PubMed  CAS  Google Scholar 

  5. Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Med 1982;306: 86–90.

    Article  PubMed  CAS  Google Scholar 

  6. Jüngling O. Ostitis tuberculosa multiplex cystica. Fortsschr Röntgenstr 1920;27: 375.

    Google Scholar 

  7. Fitzgerald P, Meenan FO. Sarcoidosis of hand. J Bone Joint Surg Br 1958;40: 256–261.

    PubMed  Google Scholar 

  8. Yanardag H, Pamuk ON. Bone cysts in sarcoidosis:what is their clinical significance? Rheumatol Int 2004;24: 294–296.

    PubMed  Google Scholar 

  9. Freyschmidt J, Freyschmidt-Paul P. SKIBO diseases:a concept to avoid bloody diagnostic procedures in ambiguous skeletal lesions. Eur Radiol 2001;11: 1729–1742.

    Article  PubMed  CAS  Google Scholar 

  10. Blank NM, Steininger H, Kalden JR, Burkhardt H. Symptomatic bone lesion of the tibia head as onset manifestation of sarcoidosis. J Rheumatol 1999;26: 936–937.

    PubMed  CAS  Google Scholar 

  11. Moore SL, Teirstein A, Golimbu C. MRI of sarcoidosis patients with musculoskeletal symptoms. Am J Roentgenol 2005;185: 154–159.

    Google Scholar 

  12. van Rossum MA, Zwinderman AH, Boers M, et al. Radiologic features in juvenile idiopathic arthritis:a first step in the development of a standardized assessment method. Arthritis Rheum 2003;48: 507–515.

    Article  PubMed  Google Scholar 

  13. Schurmann M, Valentonyte R, Hampe J, Muller-Quernheim J, Schwinger E, Schreiber S. CARD15 gene mutations in sarcoidosis. Eur Respir J 2003;22: 748–754.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Norbert Blank.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Blank, N., Max, R., Autschbach, F. et al. Familial early onset sarcoidosis with bone cysts and erosions. Skeletal Radiol 36, 891–893 (2007). https://doi.org/10.1007/s00256-007-0315-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00256-007-0315-5

Keywords

Navigation