Mixed Connective Tissue Disease Highlighting Diagnostic Exigency and Treatment Woes

  • Sabahat Zamani Nagma Deccan College of Medical Sciences
  • Nabila Afsar Deccan College of Medical Sciences
  • Idrees Akhtar Afroze Deccan College of Medical Sciences
  • Atiya Begum Deccan College of Medical Sciences
DOI: https://doi.org/10.21276/apalm.2468
Keywords: MCTD, anti-U1RNP, Raynaud's

Abstract

Mixed connective tissue disease (MCTD) is a rare connective tissue disease characterized by manifestations that overlap symptoms typical of several other inflammatory diseases of connective tissue. A presence of anti-ribonucleoprotein antibodies (antiU1RNP) in high titer is a typical immunological finding. A 20 year old female complained of chilling and cyanosis of fingers on cold exposure since 5 years, with pain and numbness, hardening of skin of both hands, episodes of Raynaud’s phenomenon,gangrenous changes, self amputation of distal digit of middle finger. Systemic manifestations were also associated.  A 15 year old female complained of thickening and tightening of skin of face and hands since 5 months, associated with joint pains, shortness of breath, dysphagia and photosensitivity of skin. Both cases were positive for Anti U1-RNP and Anti-SSA/Ro52 antibodies. Serology, radiology and histopathology were performed.. MCTD may be difficult to define as definite classification criteria are not fulfilled. Young and pediatric patients with skin manifestations must be investigated to initiate early treatment and monitor renal parameters. Patient compliance and trust in treating physician is a key to early diagnosis and treatment. Treating physician must recognize symptoms and refer patients to higher centres.

Author Biographies

Sabahat Zamani Nagma, Deccan College of Medical Sciences
Post Graduate  Department of Pathology Deccan College of Medical Sciences  
Nabila Afsar, Deccan College of Medical Sciences
Assistant Professor,Department of pathology
Idrees Akhtar Afroze, Deccan College of Medical Sciences
Professor Department of Pathology Deccan College of Medical Sciences
Atiya Begum, Deccan College of Medical Sciences
Professor and Head of Department Department of Pathology Deccan College of Medical Sciences

References

1. Puszczewicz M. Mieszana choroba tkanki łącznej. In: WielkaInterna. Reumatologia [Polish]. Puszczewicz M (ed.). MedicalTribune Polska, Warsaw 2010; 157-62.
2. Swart JF, Wulffraat NM. Diagnostic workup for mixed connectivetissue disease in childhood. Isr Med Assoc J 2008;10: 650-2.
3. Hoffman RW, Maldonado ME. Immune pathogenesis of mixed connective tissue disease: a short analytical review. Clin Immunol 2008; 128: 8-17.
4. Ortega-Hernandez OD, Shoenfeld Y. Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment. Best Prac Res Clin Rheumatol 2012; 26: 61-72.
5. Zimmermann-Górska I. Mieszana choroba układowa tkanki łącznej i zespoły nakładania. In: Złota Seria Interny Polskiej. Reumatologia kliniczna [Polish]. Zimmermann-Górska I (ed.).Wydawnictwo Lekarskie PZWL, Warsaw 2009; 695-700.
6. Sierakowski S, Sierakowska M. Choroby twardzinopodobne.In: Złota Seria Interny Polskiej. Reumatologia kliniczna [Polish]. Zimmermann-Górska I. Wydawnictwo LekarskiePZWL, Warsaw 2009: 624-38.
7. Zulian F, Vallongo C, Woo P, et al. Localized scleroderma in childhood is not just a skin disease. Arthritis Rheum 2005;52: 2873-81.
8. Joanna Latuśkiewicz-Potemska, Agnieszka Zygmunt, Małgorzata Biernacka-Zielińska, Jerzy Stańczyk, Elżbieta Smolewska; Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl Postępy Dermatologii i Alergologii 334 5, October / 2013
9.Villalta D, Imbastaro T, Di Giovanni S, Lauriti C, Gabini M, Turi MC, Bizzaro N. Diagnostic accuracy and predictive value of extended autoantibody profile in systemic sclerosis.
10. Isabelle marie, stephane dominique, herve´ levesque,philippe ducrotte´,philippe denis, marie-france hellot, and hubert courtois Esophageal Involvement and Pulmonary Manifestations in Systemic Sclerosis;American College of Rheumatology Published by Wiley-Liss, Inc. August 2001 Vol. 45, No. 4
11. Golding DN. Morphoea (localised scleroderma) in a patient with mixed connective tissue disease. Ann Rheum Dis 1986;45: 523-5..
12. Essalah AA, Eddy AA. A morbid course in a girl with mixed connective disease. Pediat Nephrol 1999; 13: 54-6.
Published
01-10-2019
Issue
Vol 6 No 9 (2019)
Section
Case Report

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