Mixed Connective Tissue Disease Highlighting Diagnostic Exigency and Treatment Woes
DOI:
https://doi.org/10.21276/apalm.2468Keywords:
MCTD, anti-U1RNP, Raynaud'sAbstract
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.
References
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.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2019 Sabahat Zamani Nagma, Nabila Afsar, Idrees Akhtar Afroze, Atiya Begum
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access at http://opcit.eprints.org/oacitation-biblio.html).
