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
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

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Published
2019-10-01
Section
Case Report