Analysis of mixed connective disorder: a case report

Authors

  • Muzammil Mohammed Department of Medicine, Shadan Institute of Medical Sciences, Telangana, India
  • Riyaz Mohammed Department of Medicine, MNR Medical College and Hospital, Telangana, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20241271

Keywords:

Autoantibody, Systemic lupus erythematosus, Mixed connective tissue disease, Malar rash, Salt pepper like appearance

Abstract

Mixed connective tissue disease (MCTD) as an autoimmune disorder with characteristics that resemble systemic sclerosis, systemic lupus erythematosus (SLE), and polymyositis. Due to this overlap, MCTD is often categorized as an overlap disease. As the disease progresses, symptoms may become more indicative of one of the three primary illnesses, accompanied by elevated levels of anti-U1RNP antibody. 30yrs female Patient presented with a classical malar rash as the initial presentation, followed by the development of a painful red lesion on the knuckles over a few weeks. Additionally, the patient observed a hypopigmented large lesion on the forearm resembling vitiligo, with a salt and pepper appearance. Upon clinical evaluation and further extensive investigation, the patient was diagnosed with mixed connective tissue disease (MCTD). On further evaluation the anti-U1RNP antibody, ANA, was positive and patient was treated on lines of MCTD. Patient responded well to the treatment. Our case suggests that mixed connective tissue disease if recognised early with symptoms and signs and workup we can prevent the shift to other connective tissue diseases over a long period; therefore, it is necessary to identify whether patients with mixed connective tissue disease fulfil the diagnostic criteria for other connective tissue diseases when new manifestations appear.

Metrics

Metrics Loading ...

References

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;52(2):148-59.

Bennett RM, O'Connell DJ. Mixed connective tissue disease: a clinicopathologic study of 20 cases. Semin Arthritis Rheum. 1980;10(1):25-51.

Alarcón-Segovia D, Cardiel MH. Comparison between 3 diagnostic criteria for mixed connective tissue disease. Study of 593 patients. J Rheumatol. 1989;16(3):328-34.

Tanaka Y, Kuwana M, Fujii T, Kameda H, Muro Y, Fujio K, et al. 2019 Diagnostic criteria for mixed connective tissue disease (MCTD): From the Japan research committee of the ministry of health, labor, and welfare for systemic autoimmune diseases. Mod Rheumatol. 2021;31(1):29-33.

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;68(12):1843-8.

Gunnarsson R, Molberg O, Gilboe IM, Gran JT, PAHNOR1 Study Group. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis. 2011;70(6):1047-51.

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;40(7):1134–42.

Reiseter S, Gunnarsson R, Corander J, Haydon J, Lund MB, Aaløkken TM, et al. Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study. Arthritis Res Therapy. 2017;19(1):284.

Cappelli S, Bellando Randone S., Martinović D., et al. "To Be or Not To Be," Ten Years After: Evidence for Mixed Connective Tissue Disease as a Distinct Entity. Seminars in Arthritis and Rheumatism. 2012;41(4):589–98.

Mimura Y, Ihn H, Jinnin M, Asano Y, Yamane K, Tamaki K. Rheumatoid factor isotypes in mixed connective tissue disease. Clinical Rheumatology. 2006;25(4):572–4.

Venables PJ. Mixed connective tissue disease. Lupus. 2006;15(3):132–7.

Gunnarsson R, Andreassen AK, Molberg Ø, Lexberg ÅS, Time K, Dhainaut AS, et al. Prevalence of pulmonary hypertension in an unselected, mixed connective tissue disease cohort: results of a nationwide, Norwegian cross-sectional multicentre study and review of current literature. Rheumatology. 2013;52(7):1208–13.

Vegh J, Szodoray P, Kappelmayer J, Csipo I, Udvardy M, Lakos G, et al. Clinical and immunoserological characteristics of mixed connective tissue disease associated with pulmonary arterial hypertension. Scand Journal Immunol. 2006;64(1):69–76.

Reiseter S, Gunnarsson R, Mogens Aaløkken T, Lund MB, Mynarek G, Corander J, et al. Progression and mortality of interstitial lung disease in mixed connective tissue disease: a long-term observational nationwide cohort study. Rheumatology. 2018;57(2):255–62.

Fagundes MN, Caleiro MTC, Navarro-Rodriguez T, Baldi BG, Kavakama J, Salge JM, et al. Esophageal involvement and interstitial lung disease in mixed connective tissue disease. Respiratory Medicine. 2009;103(6):854–60.

Pepmueller PH. Undifferentiated connective tissue disease, mixed connective tissue disease, and overlap syndromes in rheumatology. Missouri Medicine. 2016;113(2):136-40.

Amigues JM, Cantagrel A, Abbal M, Mazieres B. Comparative study of 4 diagnosis criteria sets for mixed connective tissue disease in patients with anti-RNP antibodies. Autoimmunity Group of the Hospitals of Toulouse. J Rheumatol. 1996;23(12):2055-62.

Sharp GC. Mixed connective tissue disease and antinuclear antibodies. Diagnostic criteria for classification of MCTD. Amsterdam: Elsevier; 1987: 23-32.

Downloads

Published

2024-04-30

How to Cite

Mohammed, M., & Mohammed, R. (2024). Analysis of mixed connective disorder: a case report. International Journal of Research in Medical Sciences, 12(5), 1754–1758. https://doi.org/10.18203/2320-6012.ijrms20241271

Issue

Section

Case Reports