Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Case Study
  • Published:

A case of undifferentiated connective tissue disease: is it a distinct clinical entity?

Nature Clinical Practice Rheumatology volume 4, pages 328–332 (2008)Cite this article

Abstract

Background In November 2001, a 24-year-old woman with thrombocytopenia and Raynaud's phenomenon presented to our clinic. Her physical examination was unremarkable except for bruising on her legs and arms.

Investigations Laboratory assays detected the presence of antinuclear and anti-ribonucleoprotein antibodies. Tests for antibodies to double-stranded DNA and for antiphospholipid (lupus anticoagulant and anticardiolipin), anticentromere, anti-Scl-70, and antiplatelet antibodies were negative, as was a Coombs test. An echocardiogram, chest X-ray, and abdominal scan showed no abnormalities. Nailfold digital capillaroscopy revealed minor capillary changes not specific for scleroderma.

Diagnosis Undifferentiated connective tissue disease.

Management The patient was successfully treated initially with high doses of corticosteroids and azathioprine, followed by rapid dose tapering. Therapy was continued for 2 years and then stopped. Over the next 4 years the patient's disease history was unremarkable, apart from mild Raynaud's phenomenon of the hands and the presence antinuclear and anti-ribonucleoprotein antibodies. The diagnosis of undifferentiated connective tissue disease was confirmed at her most-recent assessment, in October 2007.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. LeRoy EC et al. (1980) Undifferentiated connective tissue syndromes. Arthritis Rheum 23: 341–343

    Article  CAS  Google Scholar 

  2. Ganczarczyk L et al. (1989) Latent lupus. J Rheumatol 16: 475–478

    CAS  PubMed  Google Scholar 

  3. Greer JM and Panush RS (1989) Incomplete lupus erythematosus. Arch Intern Med 149: 2473–2476

    Article  CAS  Google Scholar 

  4. Alarcón GS et al. (1991) Early undifferentiated connective tissue disease. I. Early clinical manifestations in a large cohort of patients with undifferentiated connective tissue diseases compared with cohorts of well-established connective tissue disease. J Rheumatol 18: 1332–1339

    PubMed  Google Scholar 

  5. Mosca M et al. (1998) Undifferentiated connective tissue diseases: the clinical and serological profiles in 91 patients followed for at least 1 year. Lupus 7: 95–100

    Article  CAS  Google Scholar 

  6. Danieli MG et al. (1999) Five-year follow-up of 165 Italian patients with undifferentiated connective tissue diseases. Clin Exp Rheumatol 17: 585–591

    CAS  PubMed  Google Scholar 

  7. Williams HJ et al. (1999) Early undifferentiated tissue disease. VI. An inception cohort after 10 years: disease remissions and changes in diagnoses in well established and undifferentiated CTD. J Rheumatol 26: 816–825

    CAS  PubMed  Google Scholar 

  8. Vila LM et al. (2000) Clinical outcome and predictors of disease evolution in patients with incomplete lupus erythematosus. Lupus 9: 110–115

    Article  CAS  Google Scholar 

  9. Mosca M et al. (1999) Undifferentiated connective tissue diseases (UCTD): a review of the literature and a proposal for preliminary classification criteria. Clin Exp Rheumatol 17: 615–620

    CAS  PubMed  Google Scholar 

  10. Swaak AJ et al. (2001) Incomplete lupus erythematosus: results of a multicenter study under the supervision of the EULAR Standing Committee on International Clinical Studies Including Therapeutic Trials (ESCISIT). Rheumatology 40: 89–94

    Article  CAS  Google Scholar 

  11. Bodolay E et al. (2003) Five-year follow-up of 665 Hungarian patients with undifferentiated connective tissue disease (UCTD). Clin Exp Rheumatol 21: 313–320

    CAS  PubMed  Google Scholar 

  12. Mosca M et al. (2002) Undifferentiated connective tissue disease: analysis of 83 patients with a minimum follow-up of 5 years. J Rheumatol 29: 2345–2349

    PubMed  Google Scholar 

  13. Mosca M et al. (2007) Undifferentiated connective tissue diseases (UCTD): a new frontier for rheumatology. Best Pract Res Clin Rheumatol 21: 1011–1123

    Article  CAS  Google Scholar 

  14. Mosca M et al. (2007) Anti-C1q antibodies in pregnant patients with systemic lupus erythematosus. Clin Exp Rheumatol 25: 449–452

    CAS  PubMed  Google Scholar 

  15. Rand Mariq H and Valter I (2004) A working classification of scleroderma spectrum disorders: a proposal and the results of testing on a sample of patients. Clin Exp Rheumatol 22 (Suppl 33): S5–S13

    Google Scholar 

  16. Asherson RA (2006) New subsets of the antiphospholipid syndrome in 2006: “PRE-APS” (probable APS) and microangiopathic antiphospholipid syndromes (“MAPS”). Autoimmun Rev 6: 76–80

    Article  Google Scholar 

  17. Lazaro MA et al. (1989) Clinical and serologic characteristics of patients with overlap syndrome: is mixed connective tissue disease a distinct clinical entity. Medicine 68: 58–65

    Article  CAS  Google Scholar 

  18. Aringer M et al. (2005) Does mixed connective tissue disease exist? Yes. Rheum Dis Clin North Am 31: 411–420

    Article  Google Scholar 

  19. Burdt MA et al. (1999) Long term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 42: 899–909

    Article  CAS  Google Scholar 

  20. Doria A et al. (2005) Defining unclassifiable connective tissue diseases: incomplete, undifferentiated or both. J Rheumatol 32: 213–215

    PubMed  Google Scholar 

  21. Mosca M et al. (2002) Pregnancy outcome in patients with undifferentiated connective tissue disease: a preliminary study on 25 pregnancies. Lupus 11: 304–307

    Article  CAS  Google Scholar 

Download references

Acknowledgements

Désirée Lie, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the Medscape-accredited continuing medical education activity associated with this article.

Author information

Authors and Affiliations

  1. Department of Internal Medicine, M Mosca is Assistant Professor of Rheumatology, C Tani is a PhD Fellow, and S Bombardieri is Professor of Rheumatology, at the Rheumatology Unit, University of Pisa, Pisa, Italy.,

    Marta Mosca, Chiara Tani & Stefano Bombardieri

Authors
  1. Marta Mosca
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Chiara Tani
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Stefano Bombardieri
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Marta Mosca.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mosca, M., Tani, C. & Bombardieri, S. A case of undifferentiated connective tissue disease: is it a distinct clinical entity?. Nat Rev Rheumatol 4, 328–332 (2008). https://doi.org/10.1038/ncprheum0799

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ncprheum0799

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing