Mixed Connective Tissue Disorder: A Rare Case Report

Pattanshetty Sunil; Hadagali Swathi; Murtuza Kauser; G D Marulasreshta; S R Vagesh Kumar; G Prashanth

doi:10.51131/IJPCCR/v3i3.22.40

Article

Mixed Connective Tissue Disorder: A Rare Case Report

VIEWS 4360
PDF 1309

International Journal of Preclinical and Clinical Research

DOI: 10.51131/IJPCCR/v3i3.22.40

Year: 2022, Volume: 3, Issue: 3, Pages: 74-77

Case Report

Mixed Connective Tissue Disorder: A Rare Case Report

Pattanshetty Sunil ¹ , Hadagali Swathi ² , Murtuza Kauser ^{✉ 3} , G D Marulasreshta² , S R Vagesh Kumar ⁴ , G Prashanth ⁵

¹ Postgraduate, Department of General Medicine, Basaveshwara Medical College and Hospital, Chitradurga, Karnataka, India

²Senior resident, Department of General Medicine, Basaveshwara Medical College and Hospital, Chitradurga, Karnataka, India

³ Professor, Department of General Medicine, Basaveshwara Medical College and Hospital, Chitradurga, Karnataka, India

⁴ Professor and Head Of Department, Department of General Medicine, Basaveshwara Medical College And Hospital, Chitradurga, Karnataka, India

⁵ Professor and Dean, Department of General Medicine, , Basaveshwara Medical College and Hospital, Chitradurga, Karnataka, India

Corresponding author ✉ : [email protected]

Received Date:19 October 2022, Accepted Date:23 November 2022, Published Date:13 December 2022

This work is licensed under a Creative Commons Attribution 4.0 International License.

Abstract

MCTD is a rare disease with overlapping features of many connective tissue disorder and the presence of positive anti-U1RNP antibodies with anti-ssA (Ro), anti-ssB (La) being negative. We report a case with fever and edema of upper limb and lower limb small joints associated with violaceous discolouration which on further evaluation led to diagnosis of MCTD. A female aged 44 years presented with history of fever of moderate degree with no diurnal variation and subsides on taking medication for 7 days and had also noticed ecchymoses followed by maculopapular rashes (violaceous) associated with tenderness of fingers and toes (more on exposure to cold). On further evaluation led to a diagnosis of MCTD. This case report urges the clinicians to exercise great caution for connective tissue diseases in patient presenting with similar history. This rare case of disease is uncommon in the available literature, especially for this ethnicity or region. This report should be of great interests to all diagnosticians of internal medicine.

Keywords: Mixed connective tissue disorder, Raynaud’s phenomenon, sclerodactyly, Anti-U1nRNP antibody, Scleroderma

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) The American Journal of Medicine. 1972;52(2):148–159. Available from: https://doi.org/10.1016/0002-9343(72)90064-2
Nakae K, Furusawa F, Kasukawa R. A nationwide epidemiological survey on diffuse collagen diseases: Estimation of prevalence rate in Japan. In: Kasukawa R, Sharp G., eds. Mixed Connective Tissue Disease and Anti-nuclear Antibodies. (p. 9) 1987.
Kahn MF, Bourgeois P, Aeschlimann A, Truchis PD. Mixed connective tissue disease after exposure to polyvinyl chloride. J Rheumatol. 1989;16(4):533–538. Available from: https://pubmed.ncbi.nlm.nih.gov/2746593/
Qkumagai Y, Shiokawa Y, Medsger TA, Rodnan GP. Clinical spectrum of connective tissue disease after cosmetic surgery. Observations on eighteen patients and a review of the Japanese literature. Arthritis Rheum. 1984;27(1):1–12. Available from: https://doi.org/10.1002/art.1780270101
Gunnarsson R, Molberg Ø, Gilboe IMM, Gran JT. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Annals of the Rheumatic Diseases. 2011;70(6):1047–1051. Available from: https://doi.org/10.1136/ard.2010.143792
Hench PK, Edington TS, Tam EM. The Evolving clinical spectrum of mixed connective tissue disease. Arthritis Rheum. 1975;18:404–412.
Alarcon-Segovia D, Cardiel MH. Comparison between 3 diagnostic criteria for mixed connective tissue disease. Study of 593 patients. J Rheumatol. 1989;16(3):328–332. Available from: https://pubmed.ncbi.nlm.nih.gov/2724251/
Haroon N, Nisha RS, Chandran V, Bharadwaj A. Pulmonary hypertension not a major feature of early mixed connective tissue disease: A prospective clinicoserological study. J Postgrad Med. 2005;51(2):104–111. Available from: https://pubmed.ncbi.nlm.nih.gov/16006700/
Maldonado ME, Perez M, Pignac-Kobinger J. Clinical and immunologic manifestations of mixed connective tissue disease in a Miami population compared to a Midwestern US Caucasian population. J Rheumatol. 2008;35(3):429–437. Available from: https://pubmed.ncbi.nlm.nih.gov/18260175/
Ortega-Hernandez ODD, Shoenfeld Y. Mixed connective tissue disease: An overview of clinical manifestations, diagnosis and treatment. Best Practice & Research Clinical Rheumatology. 2012;26(1):61–72. Available from: https://doi.org/10.1016/j.berh.2012.01.009
Mok CC, Ho LY, To CH. Rituximab for refractory polymyositis: An open-label prospective study. J Rheumatol. 2007;34(9):1864–1872. Available from: https://pubmed.ncbi.nlm.nih.gov/17722224/

Copyright

© 2022 Sunil et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Published By Basaveshwara Medical College & Hospital, Chitradurga, Karnataka