Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Dermatologic Manifestations of Mixed Connective Tissue Disease Differential Diagnoses

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
 
Updated: Jun 13, 2016
 
 

Diagnostic Considerations

Also consider Kikuchi disease.[25]

Different connective-tissue diseases, especially early and particularly in childhood, may be challenging to diagnose. Months or years may pass before an accurate diagnosis can be made.[26] The 2013 American College of Rheumatology/European League Against Rheumatism Classification Criteria for Systemic Sclerosis (SSc) on defined subgroups of systemic sclerosis (SSc) and in mixed connective-tissue disease (MCTD) as an SSc-related disease were found to be more sensitive than the American College of Rheumatology 1980 criteria.[27] However, there remain concerns with regard to distinguishing systemic sclerosis from MCTD.

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Anna Wozniacka, MD, PhD Professor, Department of Dermatology, Medical University of Lodz, Poland

Anna Wozniacka, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology, Polish Dermatological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Russell Hall, MD J Lamar Callaway Professor And Chair, Department of Dermatology, Duke University Medical Center, Duke University School of Medicine

Russell Hall, MD is a member of the following medical societies: American Academy of Dermatology, American Federation for Medical Research, American Society for Clinical Investigation, Society for Investigative Dermatology

Disclosure: Received consulting fee from Novan for consulting; Received consulting fee from Stieffel, a GSK company for consulting; Received salary from Society for Investigative Dermatology for board membership.

Acknowledgements

Anna Sysa-Jedrzejowska, MD, PhD Head, Professor, Department of Dermatology and Venereology, Medical University of Lodz, Poland

Disclosure: Nothing to disclose.

References
  1. Tani C, Carli L, Vagnani S, Talarico R, Baldini C, Mosca M, et al. The diagnosis and classification of mixed connective tissue disease. J Autoimmun. 2014 Feb-Mar. 48-49:46-9. [Medline].

  2. Aringer M, Steiner G, Smolen JS. Does mixed connective tissue disease exist? Yes. Rheum Dis Clin North Am. 2005 Aug. 31(3):411-20, v. [Medline].

  3. Cappelli S, Bellando Randone S, Martinovic D, Tamas MM, Pasalic K, Allanore Y, et al. "To be or not to be," ten years after: evidence for mixed connective tissue disease as a distinct entity. Semin Arthritis Rheum. 2012 Feb. 41(4):589-98. [Medline].

  4. Yoshida K, Inoue H, Komai K, Yamane T, Hashiramoto A, Shiozawa K, et al. Mixed connective tissue disease is distinct from systemic lupus erythematosus: study of major histocompatibility complex class I polypeptide-related sequence A and HLA gene polymorphisms. Tissue Antigens. 2013 Jan. 81(1):44-5. [Medline].

  5. Kattah NH, Kattah MG, Utz PJ. The U1-snRNP complex: structural properties relating to autoimmune pathogenesis in rheumatic diseases. Immunol Rev. 2010 Jan. 233(1):126-45. [Medline].

  6. Paradowska-Gorycka A, Stypińska B, Olesińska M, Felis-Giemza A, Mańczak M, Czuszynska Z, et al. Association of HLA-DRB1 alleles with susceptibility to mixed connective tissue disease in Polish patients. HLA. 2016 Jan. 87 (1):13-8. [Medline].

  7. Gunnarsson R, Molberg O, Gilboe IM, Gran JT. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis. 2011 Mar 11. [Medline].

  8. Ungprasert P, Crowson CS, Chowdhary VR, Ernste FC, Moder KG, Matteson EL. Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study. Arthritis Care Res (Hoboken). 2016 Mar 4. [Medline].

  9. Ortega-Hernandez OD, Shoenfeld Y. Mixed connective tissue disease: An overview of clinical manifestations, diagnosis and treatment. Best Pract Res Clin Rheumatol. 2012 Feb. 26(1):61-72. [Medline].

  10. Hajas A, Szodoray P, Nakken B, Gaal J, Zöld E, Laczik R, et al. Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease. J Rheumatol. 2013 Jul. 40(7):1134-1142. [Medline].

  11. Grader-Beck T, Wigley FM. Raynaud's phenomenon in mixed connective tissue disease. Rheum Dis Clin North Am. 2005 Aug. 31(3):465-81, vi. [Medline].

  12. Hall S, Hanrahan P. Muscle involvement in mixed connective tissue disease. Rheum Dis Clin North Am. 2005 Aug. 31(3):509-17, vii. [Medline].

  13. Swart JF, Wulffraat NM. Diagnostic workup for mixed connective tissue disease in childhood. Isr Med Assoc J. 2008 Aug-Sep. 10(8-9):650-2. [Medline].

  14. Berard RA, Laxer RM. Pediatric Mixed Connective Tissue Disease. Curr Rheumatol Rep. 2016 May. 18 (5):28. [Medline].

  15. Oh YB, Jun JB, Kim CK, et al. Mixed connective tissue disease associated with skin defects of livedoid vasculitis. Clin Rheumatol. 2000. 19(5):381-4. [Medline].

  16. Yamamura K, Takahara M, Masunaga K, Sawabe T, Kitano M, Mashino T, et al. Subcutaneous calcification of the lower legs in a patient with mixed connective tissue disease. J Dermatol. 2011 Mar 21. [Medline].

  17. Usuba FS, Lopes JB, Fuller R, Yamamoto JH, Alves MR, Pasoto SG, et al. Sjögren's syndrome: An underdiagnosed condition in mixed connective tissue disease. Clinics (Sao Paulo). 2014 Mar. 69(3):158-62. [Medline]. [Full Text].

  18. Sen S, Sinhamahapatra P, Choudhury S, Gangopadhyay A, Bala S, Sircar G, et al. Cutaneous manifestations of mixed connective tissue disease: study from a tertiary care hospital in eastern India. Indian J Dermatol. 2014 Jan. 59(1):35-40. [Medline]. [Full Text].

  19. Weber P, Ganser G, Frosch M, Roth J, Hülskamp G, Zimmer KP. Twenty-four hour intraesophageal pH monitoring in children and adolescents with scleroderma and mixed connective tissue disease. J Rheumatol. 2000 Nov. 27(11):2692-5. [Medline].

  20. Fagundes MN, Caleiro MT, Navarro-Rodriguez T, et al. Esophageal involvement and interstitial lung disease in mixed connective tissue disease. Respir Med. 2009 Jun. 103(6):854-60. [Medline].

  21. Aalokken TM, Lilleby V, Soyseth V, et al. Chest abnormalities in juvenile-onset mixed connective tissue disease: assessment with high-resolution computed tomography and pulmonary function tests. Acta Radiol. 2009 May. 50(4):430-6. [Medline].

  22. Colin G, Nunes H, Hatron PY, Cadranel J, Tillie I, Wallaert B. [Clinical study of interstitial lung disease in mixed connective tissue disease]. Rev Mal Respir. 2010 Mar. 27(3):238-46. [Medline].

  23. Nowicka-Sauer K, Czuszynska Z, Majkowicz M, Smolenska Z, Jarmoszewicz K, Olesinska M, et al. Neuropsychological assessment in mixed connective tissue disease: comparison with systemic lupus erythematosus. Lupus. 2012 Mar 20. [Medline].

  24. Lundberg IE. Cardiac involvement in autoimmune myositis and mixed connective tissue disease. Lupus. 2005. 14(9):708-12. [Medline].

  25. Gourley I, Bell AL, Biggart D. Kikuchi's disease as a presenting feature of mixed connective tissue disease. Clin Rheumatol. 1995 Jan. 14(1):104-7. [Medline].

  26. Latuskiewicz-Potemska J, Zygmunt A, Biernacka-Zielinska M, Stanczyk J, Smolewska E. Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl. Postepy Dermatol Alergol. 2013 Oct. 30(5):329-36. [Medline]. [Full Text].

  27. Hoffmann-Vold AM, Gunnarsson R, Garen T, Midtvedt Ø, Molberg Ø. Performance of the 2013 American College of Rheumatology/European League Against Rheumatism Classification Criteria for Systemic Sclerosis (SSc) in large, well-defined cohorts of SSc and mixed connective tissue disease. J Rheumatol. 2015 Jan. 42(1):60-3. [Medline].

  28. Rai R, Swetha T. Association of anti-phospholipid antibodies with connective tissue diseases. Indian Dermatol Online J. 2015 Mar-Apr. 6(2):89-91. [Medline]. [Full Text].

  29. Peller JS, Gabor GT, Porter JM, Bennett RM. Angiographic findings in mixed connective tissue disease. Correlation with fingernail capillary photomicroscopy and digital photoplethysmography findings. Arthritis Rheum. 1985 Jul. 28(7):768-74. [Medline].

  30. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med. 1972 Feb. 52(2):148-59. [Medline].

  31. Hof D, Raats JM, Pruijn GJ. Apoptotic modifications affect the autoreactivity of the U1 snRNP autoantigen. Autoimmun Rev. 2005 Jul. 4(6):380-8. [Medline].

  32. Hasegawa EM, Caleiro MT, Fuller R, Carvalho JF. The frequency of anti-beta2-glycoprotein I antibodies is low and these antibodies are associated with pulmonary hypertension in mixed connective tissue disease. Lupus. 2009 Jun. 18(7):618-21. [Medline].

  33. Seguchi M, Soejima Y, Tateishi A, et al. Mixed connective tissue disease with multiple organ damage: successful treatment with plasmapheresis. Intern Med. 2000 Dec. 39(12):1119-22. [Medline].

  34. Lage R, Biccigo DG, Santos FB, Chimara E, Pereira ES, Costa Ad. Mycobacterium chelonae cutaneous infection in a patient with mixed connective tissue disease. An Bras Dermatol. 2015 Jan-Feb. 90(1):104-7. [Medline]. [Full Text].

  35. Guo RF, Gebreab FH, Tang EH, Piao Z, Lee SS, Perez ML. Cutaneous ulcer as leading symptom of systemic cytomegalovirus infection. Case Rep Infect Dis. 2015. 2015:723962. [Medline]. [Full Text].

Previous
Next
 
Sclerodermalike changes on the face.
Sausage-shaped fingers in a patient with Raynaud phenomenon.
Direct immunofluorescence testing shows epidermal nuclear immunoglobulin G staining.
Indirect immunofluorescence testing shows the typical speckled pattern for ribonucleoprotein antibodies on a HEp-2 substrate.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.